Canonical Allele Identifier: CA375315112

Gene: POMT1

Linked Data

• dbSNP Id: rs1345826937
• MyVariant Identifiers: chr9:g.134398378G>A (hg19) ; chr9:g.131522991G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522991G>A , CM000671.2:g.131522991G>A	GRCh38
NC_000009.11:g.134398378G>A , CM000671.1:g.134398378G>A	GRCh37
NC_000009.10:g.133388199G>A	NCBI36
NG_008896.1:g.25090G>A
NG_008896.2:g.25090G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1901G>A	ENSP00000343034.7:p.Cys634Tyr
ENST00000404875.7:n.2603G>A
ENST00000423007.6:c.2120G>A	ENSP00000404119.2:p.Cys707Tyr
ENST00000677295.2:c.*2407G>A	ENSP00000504346.2:n.*2407G>A
ENST00000678264.2:c.*2246G>A	ENSP00000503157.2:n.*2246G>A
ENST00000682070.1:n.2373G>A
ENST00000682639.1:c.60G>A
ENST00000682813.1:n.2460G>A
ENST00000683231.1:c.60G>A
ENST00000683392.1:n.4655G>A
ENST00000683712.1:n.2468G>A
ENST00000683900.1:n.3963G>A
ENST00000684062.1:n.2729G>A
ENST00000684399.1:c.60G>A
ENST00000684579.1:n.3909G>A
ENST00000341012.12:c.1901G>A	ENSP00000343034.7:p.Cys634Tyr
ENST00000372220.5:c.932G>A	ENSP00000361294.5:p.Cys311Tyr
ENST00000372228.9:c.2129G>A	ENSP00000361302.3:p.Cys710Tyr
ENST00000402686.8:c.2063G>A MANE Select	ENSP00000385797.4:p.Cys688Tyr
ENST00000676640.1:c.2063G>A	ENSP00000503281.1:p.Cys688Tyr
ENST00000676803.1:c.1124G>A	ENSP00000503093.1:p.Cys375Tyr
ENST00000676835.1:c.*1278G>A	ENSP00000502911.1:n.*1278G>A
ENST00000677029.1:c.1607G>A	ENSP00000502936.1:p.Cys536Tyr
ENST00000677099.1:c.*1773G>A	ENSP00000504553.1:n.*1773G>A
ENST00000677216.1:c.1712G>A	ENSP00000503772.1:p.Cys571Tyr
ENST00000677221.1:n.1088G>A
ENST00000677295.1:c.*1285G>A	ENSP00000504346.1:n.*1285G>A
ENST00000677444.1:c.2008G>A
ENST00000677586.1:n.1430G>A
ENST00000677626.1:c.1712G>A	ENSP00000503552.1:p.Cys571Tyr
ENST00000677853.1:c.*1071G>A	ENSP00000503488.1:n.*1071G>A
ENST00000678264.1:c.*1440G>A	ENSP00000503157.1:n.*1440G>A
ENST00000678303.1:c.1973G>A	ENSP00000503696.1:p.Cys658Tyr
ENST00000678366.1:c.*2312G>A	ENSP00000504353.1:n.*2312G>A
ENST00000678546.1:c.*2008G>A	ENSP00000503062.1:n.*2008G>A
ENST00000678548.1:c.*2202G>A	ENSP00000503934.1:n.*2202G>A
ENST00000678626.1:n.1899G>A
ENST00000678739.1:c.*2229G>A	ENSP00000503806.1:n.*2229G>A
ENST00000678833.1:c.*1815G>A	ENSP00000503893.1:n.*1815G>A
ENST00000679023.1:c.1901G>A	ENSP00000503718.1:p.Cys634Tyr
ENST00000679076.1:c.1682G>A
ENST00000679111.1:c.*819G>A	ENSP00000504257.1:n.*819G>A
ENST00000679189.1:c.1712G>A	ENSP00000503356.1:p.Cys571Tyr
ENST00000341012.11:c.1901G>A	ENSP00000343034.7:p.Cys634Tyr
ENST00000372220.4:c.926G>A	ENSP00000361294.4:p.Cys309Tyr
ENST00000372228.7:c.2129G>A	ENSP00000361302.3:p.Cys710Tyr
ENST00000402686.7:c.2063G>A	ENSP00000385797.3:p.Cys688Tyr
ENST00000404875.6:c.1712G>A	ENSP00000384531.2:p.Cys571Tyr
ENST00000423007.5:c.2063G>A	ENSP00000404119.1:p.Cys688Tyr
ENST00000485278.5:n.2613G>A
NM_001077365.1:c.2063G>A	NP_001070833.1:p.Cys688Tyr
NM_001077366.1:c.1901G>A	NP_001070834.1:p.Cys634Tyr
NM_001136113.1:c.2063G>A	NP_001129585.1:p.Cys688Tyr
NM_001136114.1:c.1712G>A	NP_001129586.1:p.Cys571Tyr
NM_007171.3:c.2129G>A	NP_009102.3:p.Cys710Tyr
XM_005272156.1:c.2129G>A	XP_005272213.1:p.Cys710Tyr
XM_005272158.1:c.1967G>A	XP_005272215.1:p.Cys656Tyr
XM_005272159.1:c.1778G>A	XP_005272216.1:p.Cys593Tyr
XM_005272162.1:c.932G>A	XP_005272219.1:p.Cys311Tyr
XM_006716932.1:c.1778G>A	XP_006716995.1:p.Cys593Tyr
XM_011518140.1:c.1982G>A	XP_011516442.1:p.Cys661Tyr
XM_011518141.1:c.1916G>A	XP_011516443.1:p.Cys639Tyr
XM_011518142.1:c.1820G>A	XP_011516444.1:p.Cys607Tyr
XM_011518143.1:c.1814G>A	XP_011516445.1:p.Cys605Tyr
XM_011518145.1:c.1673G>A	XP_011516447.1:p.Cys558Tyr
XM_011518147.1:c.1001G>A	XP_011516449.1:p.Cys334Tyr
XR_929703.1:n.2305G>A
NM_001353193.1:c.2129G>A	NP_001340122.1:p.Cys710Tyr
NM_001353194.1:c.1901G>A	NP_001340123.1:p.Cys634Tyr
NM_001353195.1:c.1712G>A	NP_001340124.1:p.Cys571Tyr
NM_001353196.1:c.1973G>A	NP_001340125.1:p.Cys658Tyr
NM_001353197.1:c.1967G>A	NP_001340126.1:p.Cys656Tyr
NM_001353198.1:c.1967G>A	NP_001340127.1:p.Cys656Tyr
NM_001353199.1:c.1778G>A	NP_001340128.1:p.Cys593Tyr
NM_001353200.1:c.1607G>A	NP_001340129.1:p.Cys536Tyr
NR_148391.1:n.2113G>A
NR_148392.1:n.2331G>A
NR_148393.1:n.2252G>A
NR_148394.1:n.2006G>A
NR_148395.1:n.2404G>A
NR_148396.1:n.2038G>A
NR_148397.1:n.2163G>A
NR_148398.1:n.2118G>A
NR_148399.1:n.2644G>A
NR_148400.1:n.2243G>A
XM_005272162.3:c.932G>A	XP_005272219.1:p.Cys311Tyr
XM_006716932.2:c.1778G>A	XP_006716995.1:p.Cys593Tyr
XM_011518140.2:c.1982G>A	XP_011516442.1:p.Cys661Tyr
XM_011518141.2:c.1916G>A	XP_011516443.1:p.Cys639Tyr
XM_011518142.2:c.1820G>A	XP_011516444.1:p.Cys607Tyr
XM_011518143.2:c.1814G>A	XP_011516445.1:p.Cys605Tyr
XM_011518145.2:c.1673G>A	XP_011516447.1:p.Cys558Tyr
XM_017014205.2:c.932G>A	XP_016869694.1:p.Cys311Tyr
XM_024447380.1:c.932G>A	XP_024303148.1:p.Cys311Tyr
XM_024447381.1:c.1238G>A	XP_024303149.1:p.Cys413Tyr
XM_024447382.1:c.932G>A	XP_024303150.1:p.Cys311Tyr
XR_001746160.2:n.2233G>A
XR_001746162.2:n.2438G>A
XR_001746164.1:n.2155G>A
XR_001746166.2:n.2450G>A
NM_001077365.2:c.2063G>A MANE Select	NP_001070833.1:p.Cys688Tyr
NM_001077366.2:c.1901G>A	NP_001070834.1:p.Cys634Tyr
NM_001136113.2:c.2063G>A	NP_001129585.1:p.Cys688Tyr
NM_001136114.2:c.1712G>A	NP_001129586.1:p.Cys571Tyr
NM_001353193.2:c.2129G>A	NP_001340122.2:p.Cys710Tyr
NM_001353194.2:c.1901G>A	NP_001340123.1:p.Cys634Tyr
NM_001353195.2:c.1712G>A	NP_001340124.1:p.Cys571Tyr
NM_001353196.2:c.1973G>A	NP_001340125.1:p.Cys658Tyr
NM_001353197.2:c.1967G>A	NP_001340126.2:p.Cys656Tyr
NM_001353198.2:c.1967G>A	NP_001340127.2:p.Cys656Tyr
NM_001353199.2:c.1778G>A	NP_001340128.2:p.Cys593Tyr
NM_001353200.2:c.1607G>A	NP_001340129.1:p.Cys536Tyr
NM_001374689.1:c.2051G>A	NP_001361618.1:p.Cys684Tyr
NM_001374690.1:c.1844G>A	NP_001361619.1:p.Cys615Tyr
NM_001374691.1:c.1712G>A	NP_001361620.1:p.Cys571Tyr
NM_001374692.1:c.1712G>A	NP_001361621.1:p.Cys571Tyr
NM_001374693.1:c.1712G>A	NP_001361622.1:p.Cys571Tyr
NM_001374695.1:c.1673G>A	NP_001361624.1:p.Cys558Tyr
NM_007171.4:c.2129G>A	NP_009102.4:p.Cys710Tyr
NR_148391.2:n.2097G>A
NR_148392.2:n.2315G>A
NR_148393.2:n.2236G>A
NR_148394.2:n.1990G>A
NR_148395.2:n.2388G>A
NR_148396.2:n.2022G>A
NR_148397.2:n.2147G>A
NR_148398.2:n.2102G>A
NR_148399.2:n.2628G>A
NR_148400.2:n.2227G>A