Canonical Allele Identifier: CA375308620

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134386820T>C (hg19) ; chr9:g.131511433T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131511433T>C , CM000671.2:g.131511433T>C	GRCh38
NC_000009.11:g.134386820T>C , CM000671.1:g.134386820T>C	GRCh37
NC_000009.10:g.133376641T>C	NCBI36
NG_008896.1:g.13532T>C
NG_008896.2:g.13532T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.790T>C	ENSP00000343034.7:p.Trp264Arg
ENST00000404875.7:n.1324T>C
ENST00000423007.6:c.1009T>C	ENSP00000404119.2:p.Trp337Arg
ENST00000677295.2:c.*1291T>C	ENSP00000504346.2:n.*1291T>C
ENST00000678264.2:c.*1135T>C	ENSP00000503157.2:n.*1135T>C
ENST00000678942.2:c.*505T>C	ENSP00000504690.2:n.*505T>C
ENST00000682070.1:n.1412T>C
ENST00000682813.1:n.1217T>C
ENST00000683134.1:c.319T>C
ENST00000683392.1:n.3699T>C
ENST00000683712.1:n.1352T>C
ENST00000683900.1:n.2279T>C
ENST00000684062.1:n.1618T>C
ENST00000684579.1:n.2793T>C
ENST00000341012.12:c.790T>C	ENSP00000343034.7:p.Trp264Arg
ENST00000372220.5:c.-145-608T>C	ENSP00000361294.5:n.-145-608T>C
ENST00000372228.9:c.1018T>C	ENSP00000361302.3:p.Trp340Arg
ENST00000402686.8:c.952T>C MANE Select	ENSP00000385797.4:p.Trp318Arg
ENST00000415075.6:c.*405T>C	ENSP00000405149.2:n.*405T>C
ENST00000676640.1:c.952T>C	ENSP00000503281.1:p.Trp318Arg
ENST00000676803.1:c.127T>C	ENSP00000503093.1:p.Trp43Arg
ENST00000676835.1:c.*162T>C	ENSP00000502911.1:n.*162T>C
ENST00000677029.1:c.496T>C	ENSP00000502936.1:p.Trp166Arg
ENST00000677099.1:c.*662T>C	ENSP00000504553.1:n.*662T>C
ENST00000677216.1:c.601T>C	ENSP00000503772.1:p.Trp201Arg
ENST00000677293.1:c.127T>C	ENSP00000504278.1:p.Trp43Arg
ENST00000677295.1:c.*324T>C	ENSP00000504346.1:n.*324T>C
ENST00000677444.1:c.758T>C
ENST00000677586.1:n.433T>C
ENST00000677626.1:c.790T>C	ENSP00000503552.1:p.Trp264Arg
ENST00000677677.1:n.912T>C
ENST00000677853.1:c.533T>C	ENSP00000503488.1:p.Leu178Pro
ENST00000677944.1:c.214T>C
ENST00000678264.1:c.*324T>C	ENSP00000503157.1:n.*324T>C
ENST00000678303.1:c.862T>C	ENSP00000503696.1:p.Trp288Arg
ENST00000678366.1:c.*1201T>C	ENSP00000504353.1:n.*1201T>C
ENST00000678546.1:c.*324T>C	ENSP00000503062.1:n.*324T>C
ENST00000678548.1:c.*1019T>C	ENSP00000503934.1:n.*1019T>C
ENST00000678626.1:n.644T>C
ENST00000678733.1:c.126T>C
ENST00000678739.1:c.*1273T>C	ENSP00000503806.1:n.*1273T>C
ENST00000678833.1:c.*399T>C	ENSP00000503893.1:n.*399T>C
ENST00000678942.1:c.127T>C	ENSP00000504690.1:p.Trp43Arg
ENST00000679023.1:c.790T>C	ENSP00000503718.1:p.Trp264Arg
ENST00000679073.1:c.330T>C	ENSP00000504356.1:n.330T>C
ENST00000679076.1:c.566T>C
ENST00000679111.1:c.952T>C	ENSP00000504257.1:p.Trp318Arg
ENST00000679189.1:c.601T>C	ENSP00000503356.1:p.Trp201Arg
ENST00000341012.11:c.790T>C	ENSP00000343034.7:p.Trp264Arg
ENST00000372228.7:c.1018T>C	ENSP00000361302.3:p.Trp340Arg
ENST00000402686.7:c.952T>C	ENSP00000385797.3:p.Trp318Arg
ENST00000404875.6:c.601T>C	ENSP00000384531.2:p.Trp201Arg
ENST00000415075.5:c.344T>C	ENSP00000405149.1:p.Leu115Pro
ENST00000423007.5:c.952T>C	ENSP00000404119.1:p.Trp318Arg
ENST00000441334.5:c.667T>C	ENSP00000395060.1:p.Trp223Arg
ENST00000462375.5:n.773T>C
ENST00000485278.5:n.934T>C
NM_001077365.1:c.952T>C	NP_001070833.1:p.Trp318Arg
NM_001077366.1:c.790T>C	NP_001070834.1:p.Trp264Arg
NM_001136113.1:c.952T>C	NP_001129585.1:p.Trp318Arg
NM_001136114.1:c.601T>C	NP_001129586.1:p.Trp201Arg
NM_007171.3:c.1018T>C	NP_009102.3:p.Trp340Arg
XM_005272156.1:c.1018T>C	XP_005272213.1:p.Trp340Arg
XM_005272158.1:c.856T>C	XP_005272215.1:p.Trp286Arg
XM_005272159.1:c.667T>C	XP_005272216.1:p.Trp223Arg
XM_005272162.1:c.-185T>C	XP_005272219.1:n.-185T>C
XM_006716932.1:c.667T>C	XP_006716995.1:p.Trp223Arg
XM_011518140.1:c.871T>C	XP_011516442.1:p.Trp291Arg
XM_011518141.1:c.805T>C	XP_011516443.1:p.Trp269Arg
XM_011518142.1:c.709T>C	XP_011516444.1:p.Trp237Arg
XM_011518143.1:c.698T>C	XP_011516445.1:p.Leu233Pro
XM_011518144.1:c.1018T>C	XP_011516446.1:p.Trp340Arg
XM_011518145.1:c.562T>C	XP_011516447.1:p.Trp188Arg
XM_011518146.1:c.698T>C	XP_011516448.1:p.Leu233Pro
XR_929703.1:n.1194T>C
NM_001353193.1:c.1018T>C	NP_001340122.1:p.Trp340Arg
NM_001353194.1:c.790T>C	NP_001340123.1:p.Trp264Arg
NM_001353195.1:c.601T>C	NP_001340124.1:p.Trp201Arg
NM_001353196.1:c.862T>C	NP_001340125.1:p.Trp288Arg
NM_001353197.1:c.856T>C	NP_001340126.1:p.Trp286Arg
NM_001353198.1:c.856T>C	NP_001340127.1:p.Trp286Arg
NM_001353199.1:c.667T>C	NP_001340128.1:p.Trp223Arg
NM_001353200.1:c.496T>C	NP_001340129.1:p.Trp166Arg
NR_148391.1:n.1002T>C
NR_148392.1:n.1220T>C
NR_148393.1:n.1002T>C
NR_148394.1:n.890T>C
NR_148395.1:n.1154T>C
NR_148396.1:n.783T>C
NR_148397.1:n.1047T>C
NR_148398.1:n.1002T>C
NR_148399.1:n.1394T>C
NR_148400.1:n.988T>C
XM_005272162.3:c.-185T>C	XP_005272219.1:n.-185T>C
XM_006716932.2:c.667T>C	XP_006716995.1:p.Trp223Arg
XM_011518140.2:c.871T>C	XP_011516442.1:p.Trp291Arg
XM_011518141.2:c.805T>C	XP_011516443.1:p.Trp269Arg
XM_011518142.2:c.709T>C	XP_011516444.1:p.Trp237Arg
XM_011518143.2:c.698T>C	XP_011516445.1:p.Leu233Pro
XM_011518145.2:c.562T>C	XP_011516447.1:p.Trp188Arg
XM_017014205.2:c.-185T>C	XP_016869694.1:n.-185T>C
XM_024447380.1:c.-185T>C	XP_024303148.1:n.-185T>C
XM_024447381.1:c.127T>C	XP_024303149.1:p.Trp43Arg
XM_024447382.1:c.-185T>C	XP_024303150.1:n.-185T>C
XR_001746160.2:n.1122T>C
XR_001746162.2:n.1188T>C
XR_001746164.1:n.900T>C
XR_001746166.2:n.1339T>C
NM_001077365.2:c.952T>C MANE Select	NP_001070833.1:p.Trp318Arg
NM_001077366.2:c.790T>C	NP_001070834.1:p.Trp264Arg
NM_001136113.2:c.952T>C	NP_001129585.1:p.Trp318Arg
NM_001136114.2:c.601T>C	NP_001129586.1:p.Trp201Arg
NM_001353193.2:c.1018T>C	NP_001340122.2:p.Trp340Arg
NM_001353194.2:c.790T>C	NP_001340123.1:p.Trp264Arg
NM_001353195.2:c.601T>C	NP_001340124.1:p.Trp201Arg
NM_001353196.2:c.862T>C	NP_001340125.1:p.Trp288Arg
NM_001353197.2:c.856T>C	NP_001340126.2:p.Trp286Arg
NM_001353198.2:c.856T>C	NP_001340127.2:p.Trp286Arg
NM_001353199.2:c.667T>C	NP_001340128.2:p.Trp223Arg
NM_001353200.2:c.496T>C	NP_001340129.1:p.Trp166Arg
NM_001374689.1:c.935T>C	NP_001361618.1:p.Leu312Pro
NM_001374690.1:c.952T>C	NP_001361619.1:p.Trp318Arg
NM_001374691.1:c.601T>C	NP_001361620.1:p.Trp201Arg
NM_001374692.1:c.601T>C	NP_001361621.1:p.Trp201Arg
NM_001374693.1:c.790T>C	NP_001361622.1:p.Trp264Arg
NM_001374695.1:c.562T>C	NP_001361624.1:p.Trp188Arg
NM_007171.4:c.1018T>C	NP_009102.4:p.Trp340Arg
NR_148391.2:n.986T>C
NR_148392.2:n.1204T>C
NR_148393.2:n.986T>C
NR_148394.2:n.874T>C
NR_148395.2:n.1138T>C
NR_148396.2:n.767T>C
NR_148397.2:n.1031T>C
NR_148398.2:n.986T>C
NR_148399.2:n.1378T>C
NR_148400.2:n.972T>C