Canonical Allele Identifier: CA375309068

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134388673A>C (hg19) ; chr9:g.131513286A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131513286A>C , CM000671.2:g.131513286A>C	GRCh38
NC_000009.11:g.134388673A>C , CM000671.1:g.134388673A>C	GRCh37
NC_000009.10:g.133378494A>C	NCBI36
NG_008896.1:g.15385A>C
NG_008896.2:g.15385A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.968A>C	ENSP00000343034.7:p.Asp323Ala
ENST00000404875.7:n.1670A>C
ENST00000423007.6:c.1187A>C	ENSP00000404119.2:p.Asp396Ala
ENST00000677295.2:c.*1474A>C	ENSP00000504346.2:n.*1474A>C
ENST00000678264.2:c.*1313A>C	ENSP00000503157.2:n.*1313A>C
ENST00000682070.1:n.1595A>C
ENST00000682813.1:n.1395A>C
ENST00000683392.1:n.3877A>C
ENST00000683712.1:n.1535A>C
ENST00000683900.1:n.3030A>C
ENST00000684062.1:n.1796A>C
ENST00000684579.1:n.2976A>C
ENST00000341012.12:c.968A>C	ENSP00000343034.7:p.Asp323Ala
ENST00000372220.5:c.-2A>C	ENSP00000361294.5:n.-2A>C
ENST00000372228.9:c.1196A>C	ENSP00000361302.3:p.Asp399Ala
ENST00000402686.8:c.1130A>C MANE Select	ENSP00000385797.4:p.Asp377Ala
ENST00000676640.1:c.1130A>C	ENSP00000503281.1:p.Asp377Ala
ENST00000676803.1:c.305A>C	ENSP00000503093.1:p.Asp102Ala
ENST00000676835.1:c.*345A>C	ENSP00000502911.1:n.*345A>C
ENST00000677029.1:c.674A>C	ENSP00000502936.1:p.Asp225Ala
ENST00000677099.1:c.*840A>C	ENSP00000504553.1:n.*840A>C
ENST00000677216.1:c.779A>C	ENSP00000503772.1:p.Asp260Ala
ENST00000677293.1:c.305A>C	ENSP00000504278.1:p.Asp102Ala
ENST00000677295.1:c.*507A>C	ENSP00000504346.1:n.*507A>C
ENST00000677444.1:c.936A>C
ENST00000677586.1:n.611A>C
ENST00000677626.1:c.824+1819A>C	ENSP00000503552.1:n.824+1819A>C
ENST00000677677.1:n.1090A>C
ENST00000677853.1:c.*138A>C	ENSP00000503488.1:n.*138A>C
ENST00000677944.1:c.392A>C
ENST00000678264.1:c.*507A>C	ENSP00000503157.1:n.*507A>C
ENST00000678303.1:c.1040A>C	ENSP00000503696.1:p.Asp347Ala
ENST00000678366.1:c.*1379A>C	ENSP00000504353.1:n.*1379A>C
ENST00000678546.1:c.*1075A>C	ENSP00000503062.1:n.*1075A>C
ENST00000678548.1:c.*1202A>C	ENSP00000503934.1:n.*1202A>C
ENST00000678626.1:n.827A>C
ENST00000678733.1:c.256+1150A>C
ENST00000678739.1:c.*1456A>C	ENSP00000503806.1:n.*1456A>C
ENST00000678795.1:n.217A>C
ENST00000678833.1:c.*577A>C	ENSP00000503893.1:n.*577A>C
ENST00000678942.1:c.310A>C	ENSP00000504690.1:n.310A>C
ENST00000679023.1:c.968A>C	ENSP00000503718.1:p.Asp323Ala
ENST00000679073.1:c.508A>C	ENSP00000504356.1:n.508A>C
ENST00000679076.1:c.749A>C
ENST00000679111.1:c.1130A>C	ENSP00000504257.1:p.Asp377Ala
ENST00000679189.1:c.779A>C	ENSP00000503356.1:p.Asp260Ala
ENST00000341012.11:c.968A>C	ENSP00000343034.7:p.Asp323Ala
ENST00000372228.7:c.1196A>C	ENSP00000361302.3:p.Asp399Ala
ENST00000402686.7:c.1130A>C	ENSP00000385797.3:p.Asp377Ala
ENST00000404875.6:c.779A>C	ENSP00000384531.2:p.Asp260Ala
ENST00000423007.5:c.1130A>C	ENSP00000404119.1:p.Asp377Ala
ENST00000441334.5:c.845A>C	ENSP00000395060.1:p.Asp282Ala
ENST00000462375.5:n.956A>C
ENST00000485278.5:n.1685A>C
NM_001077365.1:c.1130A>C	NP_001070833.1:p.Asp377Ala
NM_001077366.1:c.968A>C	NP_001070834.1:p.Asp323Ala
NM_001136113.1:c.1130A>C	NP_001129585.1:p.Asp377Ala
NM_001136114.1:c.779A>C	NP_001129586.1:p.Asp260Ala
NM_007171.3:c.1196A>C	NP_009102.3:p.Asp399Ala
XM_005272156.1:c.1196A>C	XP_005272213.1:p.Asp399Ala
XM_005272158.1:c.1034A>C	XP_005272215.1:p.Asp345Ala
XM_005272159.1:c.845A>C	XP_005272216.1:p.Asp282Ala
XM_005272162.1:c.-2A>C	XP_005272219.1:n.-2A>C
XM_006716932.1:c.845A>C	XP_006716995.1:p.Asp282Ala
XM_011518140.1:c.1049A>C	XP_011516442.1:p.Asp350Ala
XM_011518141.1:c.983A>C	XP_011516443.1:p.Asp328Ala
XM_011518142.1:c.887A>C	XP_011516444.1:p.Asp296Ala
XM_011518143.1:c.881A>C	XP_011516445.1:p.Asp294Ala
XM_011518144.1:c.1196A>C	XP_011516446.1:p.Asp399Ala
XM_011518145.1:c.740A>C	XP_011516447.1:p.Asp247Ala
XM_011518146.1:c.881A>C	XP_011516448.1:p.Asp294Ala
XR_929703.1:n.1372A>C
NM_001353193.1:c.1196A>C	NP_001340122.1:p.Asp399Ala
NM_001353194.1:c.968A>C	NP_001340123.1:p.Asp323Ala
NM_001353195.1:c.779A>C	NP_001340124.1:p.Asp260Ala
NM_001353196.1:c.1040A>C	NP_001340125.1:p.Asp347Ala
NM_001353197.1:c.1034A>C	NP_001340126.1:p.Asp345Ala
NM_001353198.1:c.1034A>C	NP_001340127.1:p.Asp345Ala
NM_001353199.1:c.845A>C	NP_001340128.1:p.Asp282Ala
NM_001353200.1:c.674A>C	NP_001340129.1:p.Asp225Ala
NR_148391.1:n.1180A>C
NR_148392.1:n.1398A>C
NR_148393.1:n.1180A>C
NR_148394.1:n.1073A>C
NR_148395.1:n.1332A>C
NR_148396.1:n.966A>C
NR_148397.1:n.1230A>C
NR_148398.1:n.1185A>C
NR_148399.1:n.1572A>C
NR_148400.1:n.1171A>C
XM_005272162.3:c.-2A>C	XP_005272219.1:n.-2A>C
XM_006716932.2:c.845A>C	XP_006716995.1:p.Asp282Ala
XM_011518140.2:c.1049A>C	XP_011516442.1:p.Asp350Ala
XM_011518141.2:c.983A>C	XP_011516443.1:p.Asp328Ala
XM_011518142.2:c.887A>C	XP_011516444.1:p.Asp296Ala
XM_011518143.2:c.881A>C	XP_011516445.1:p.Asp294Ala
XM_011518145.2:c.740A>C	XP_011516447.1:p.Asp247Ala
XM_017014205.2:c.-2A>C	XP_016869694.1:n.-2A>C
XM_024447380.1:c.-2A>C	XP_024303148.1:n.-2A>C
XM_024447381.1:c.305A>C	XP_024303149.1:p.Asp102Ala
XM_024447382.1:c.-2A>C	XP_024303150.1:n.-2A>C
XR_001746160.2:n.1300A>C
XR_001746162.2:n.1366A>C
XR_001746164.1:n.1083A>C
XR_001746166.2:n.1517A>C
NM_001077365.2:c.1130A>C MANE Select	NP_001070833.1:p.Asp377Ala
NM_001077366.2:c.968A>C	NP_001070834.1:p.Asp323Ala
NM_001136113.2:c.1130A>C	NP_001129585.1:p.Asp377Ala
NM_001136114.2:c.779A>C	NP_001129586.1:p.Asp260Ala
NM_001353193.2:c.1196A>C	NP_001340122.2:p.Asp399Ala
NM_001353194.2:c.968A>C	NP_001340123.1:p.Asp323Ala
NM_001353195.2:c.779A>C	NP_001340124.1:p.Asp260Ala
NM_001353196.2:c.1040A>C	NP_001340125.1:p.Asp347Ala
NM_001353197.2:c.1034A>C	NP_001340126.2:p.Asp345Ala
NM_001353198.2:c.1034A>C	NP_001340127.2:p.Asp345Ala
NM_001353199.2:c.845A>C	NP_001340128.2:p.Asp282Ala
NM_001353200.2:c.674A>C	NP_001340129.1:p.Asp225Ala
NM_001374689.1:c.1118A>C	NP_001361618.1:p.Asp373Ala
NM_001374690.1:c.1130A>C	NP_001361619.1:p.Asp377Ala
NM_001374691.1:c.779A>C	NP_001361620.1:p.Asp260Ala
NM_001374692.1:c.779A>C	NP_001361621.1:p.Asp260Ala
NM_001374693.1:c.824+1819A>C	NP_001361622.1:n.824+1819A>C
NM_001374695.1:c.740A>C	NP_001361624.1:p.Asp247Ala
NM_007171.4:c.1196A>C	NP_009102.4:p.Asp399Ala
NR_148391.2:n.1164A>C
NR_148392.2:n.1382A>C
NR_148393.2:n.1164A>C
NR_148394.2:n.1057A>C
NR_148395.2:n.1316A>C
NR_148396.2:n.950A>C
NR_148397.2:n.1214A>C
NR_148398.2:n.1169A>C
NR_148399.2:n.1556A>C
NR_148400.2:n.1155A>C