Canonical Allele Identifier: CA375315045

Gene: POMT1

Linked Data

• gnomAD v4: 9-131522975-T-C
• MyVariant Identifiers: chr9:g.134398362T>C (hg19) ; chr9:g.131522975T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522975T>C , CM000671.2:g.131522975T>C	GRCh38
NC_000009.11:g.134398362T>C , CM000671.1:g.134398362T>C	GRCh37
NC_000009.10:g.133388183T>C	NCBI36
NG_008896.1:g.25074T>C
NG_008896.2:g.25074T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1885T>C	ENSP00000343034.7:p.Trp629Arg
ENST00000404875.7:n.2587T>C
ENST00000423007.6:c.2104T>C	ENSP00000404119.2:p.Trp702Arg
ENST00000677295.2:c.*2391T>C	ENSP00000504346.2:n.*2391T>C
ENST00000678264.2:c.*2230T>C	ENSP00000503157.2:n.*2230T>C
ENST00000682070.1:n.2357T>C
ENST00000682639.1:c.44T>C
ENST00000682813.1:n.2444T>C
ENST00000683231.1:c.44T>C
ENST00000683392.1:n.4639T>C
ENST00000683712.1:n.2452T>C
ENST00000683900.1:n.3947T>C
ENST00000684062.1:n.2713T>C
ENST00000684399.1:c.44T>C
ENST00000684579.1:n.3893T>C
ENST00000341012.12:c.1885T>C	ENSP00000343034.7:p.Trp629Arg
ENST00000372220.5:c.916T>C	ENSP00000361294.5:p.Trp306Arg
ENST00000372228.9:c.2113T>C	ENSP00000361302.3:p.Trp705Arg
ENST00000402686.8:c.2047T>C MANE Select	ENSP00000385797.4:p.Trp683Arg
ENST00000676640.1:c.2047T>C	ENSP00000503281.1:p.Trp683Arg
ENST00000676803.1:c.1108T>C	ENSP00000503093.1:p.Trp370Arg
ENST00000676835.1:c.*1262T>C	ENSP00000502911.1:n.*1262T>C
ENST00000677029.1:c.1591T>C	ENSP00000502936.1:p.Trp531Arg
ENST00000677099.1:c.*1757T>C	ENSP00000504553.1:n.*1757T>C
ENST00000677216.1:c.1696T>C	ENSP00000503772.1:p.Trp566Arg
ENST00000677221.1:n.1072T>C
ENST00000677295.1:c.*1269T>C	ENSP00000504346.1:n.*1269T>C
ENST00000677444.1:c.1992T>C
ENST00000677586.1:n.1414T>C
ENST00000677626.1:c.1696T>C	ENSP00000503552.1:p.Trp566Arg
ENST00000677853.1:c.*1055T>C	ENSP00000503488.1:n.*1055T>C
ENST00000678264.1:c.*1424T>C	ENSP00000503157.1:n.*1424T>C
ENST00000678303.1:c.1957T>C	ENSP00000503696.1:p.Trp653Arg
ENST00000678366.1:c.*2296T>C	ENSP00000504353.1:n.*2296T>C
ENST00000678546.1:c.*1992T>C	ENSP00000503062.1:n.*1992T>C
ENST00000678548.1:c.*2186T>C	ENSP00000503934.1:n.*2186T>C
ENST00000678626.1:n.1883T>C
ENST00000678739.1:c.*2213T>C	ENSP00000503806.1:n.*2213T>C
ENST00000678833.1:c.*1799T>C	ENSP00000503893.1:n.*1799T>C
ENST00000679023.1:c.1885T>C	ENSP00000503718.1:p.Trp629Arg
ENST00000679076.1:c.1666T>C
ENST00000679111.1:c.*803T>C	ENSP00000504257.1:n.*803T>C
ENST00000679189.1:c.1696T>C	ENSP00000503356.1:p.Trp566Arg
ENST00000341012.11:c.1885T>C	ENSP00000343034.7:p.Trp629Arg
ENST00000372220.4:c.910T>C	ENSP00000361294.4:p.Trp304Arg
ENST00000372228.7:c.2113T>C	ENSP00000361302.3:p.Trp705Arg
ENST00000402686.7:c.2047T>C	ENSP00000385797.3:p.Trp683Arg
ENST00000404875.6:c.1696T>C	ENSP00000384531.2:p.Trp566Arg
ENST00000423007.5:c.2047T>C	ENSP00000404119.1:p.Trp683Arg
ENST00000485278.5:n.2597T>C
NM_001077365.1:c.2047T>C	NP_001070833.1:p.Trp683Arg
NM_001077366.1:c.1885T>C	NP_001070834.1:p.Trp629Arg
NM_001136113.1:c.2047T>C	NP_001129585.1:p.Trp683Arg
NM_001136114.1:c.1696T>C	NP_001129586.1:p.Trp566Arg
NM_007171.3:c.2113T>C	NP_009102.3:p.Trp705Arg
XM_005272156.1:c.2113T>C	XP_005272213.1:p.Trp705Arg
XM_005272158.1:c.1951T>C	XP_005272215.1:p.Trp651Arg
XM_005272159.1:c.1762T>C	XP_005272216.1:p.Trp588Arg
XM_005272162.1:c.916T>C	XP_005272219.1:p.Trp306Arg
XM_006716932.1:c.1762T>C	XP_006716995.1:p.Trp588Arg
XM_011518140.1:c.1966T>C	XP_011516442.1:p.Trp656Arg
XM_011518141.1:c.1900T>C	XP_011516443.1:p.Trp634Arg
XM_011518142.1:c.1804T>C	XP_011516444.1:p.Trp602Arg
XM_011518143.1:c.1798T>C	XP_011516445.1:p.Trp600Arg
XM_011518145.1:c.1657T>C	XP_011516447.1:p.Trp553Arg
XM_011518147.1:c.985T>C	XP_011516449.1:p.Trp329Arg
XR_929703.1:n.2289T>C
NM_001353193.1:c.2113T>C	NP_001340122.1:p.Trp705Arg
NM_001353194.1:c.1885T>C	NP_001340123.1:p.Trp629Arg
NM_001353195.1:c.1696T>C	NP_001340124.1:p.Trp566Arg
NM_001353196.1:c.1957T>C	NP_001340125.1:p.Trp653Arg
NM_001353197.1:c.1951T>C	NP_001340126.1:p.Trp651Arg
NM_001353198.1:c.1951T>C	NP_001340127.1:p.Trp651Arg
NM_001353199.1:c.1762T>C	NP_001340128.1:p.Trp588Arg
NM_001353200.1:c.1591T>C	NP_001340129.1:p.Trp531Arg
NR_148391.1:n.2097T>C
NR_148392.1:n.2315T>C
NR_148393.1:n.2236T>C
NR_148394.1:n.1990T>C
NR_148395.1:n.2388T>C
NR_148396.1:n.2022T>C
NR_148397.1:n.2147T>C
NR_148398.1:n.2102T>C
NR_148399.1:n.2628T>C
NR_148400.1:n.2227T>C
XM_005272162.3:c.916T>C	XP_005272219.1:p.Trp306Arg
XM_006716932.2:c.1762T>C	XP_006716995.1:p.Trp588Arg
XM_011518140.2:c.1966T>C	XP_011516442.1:p.Trp656Arg
XM_011518141.2:c.1900T>C	XP_011516443.1:p.Trp634Arg
XM_011518142.2:c.1804T>C	XP_011516444.1:p.Trp602Arg
XM_011518143.2:c.1798T>C	XP_011516445.1:p.Trp600Arg
XM_011518145.2:c.1657T>C	XP_011516447.1:p.Trp553Arg
XM_017014205.2:c.916T>C	XP_016869694.1:p.Trp306Arg
XM_024447380.1:c.916T>C	XP_024303148.1:p.Trp306Arg
XM_024447381.1:c.1222T>C	XP_024303149.1:p.Trp408Arg
XM_024447382.1:c.916T>C	XP_024303150.1:p.Trp306Arg
XR_001746160.2:n.2217T>C
XR_001746162.2:n.2422T>C
XR_001746164.1:n.2139T>C
XR_001746166.2:n.2434T>C
NM_001077365.2:c.2047T>C MANE Select	NP_001070833.1:p.Trp683Arg
NM_001077366.2:c.1885T>C	NP_001070834.1:p.Trp629Arg
NM_001136113.2:c.2047T>C	NP_001129585.1:p.Trp683Arg
NM_001136114.2:c.1696T>C	NP_001129586.1:p.Trp566Arg
NM_001353193.2:c.2113T>C	NP_001340122.2:p.Trp705Arg
NM_001353194.2:c.1885T>C	NP_001340123.1:p.Trp629Arg
NM_001353195.2:c.1696T>C	NP_001340124.1:p.Trp566Arg
NM_001353196.2:c.1957T>C	NP_001340125.1:p.Trp653Arg
NM_001353197.2:c.1951T>C	NP_001340126.2:p.Trp651Arg
NM_001353198.2:c.1951T>C	NP_001340127.2:p.Trp651Arg
NM_001353199.2:c.1762T>C	NP_001340128.2:p.Trp588Arg
NM_001353200.2:c.1591T>C	NP_001340129.1:p.Trp531Arg
NM_001374689.1:c.2035T>C	NP_001361618.1:p.Trp679Arg
NM_001374690.1:c.1828T>C	NP_001361619.1:p.Trp610Arg
NM_001374691.1:c.1696T>C	NP_001361620.1:p.Trp566Arg
NM_001374692.1:c.1696T>C	NP_001361621.1:p.Trp566Arg
NM_001374693.1:c.1696T>C	NP_001361622.1:p.Trp566Arg
NM_001374695.1:c.1657T>C	NP_001361624.1:p.Trp553Arg
NM_007171.4:c.2113T>C	NP_009102.4:p.Trp705Arg
NR_148391.2:n.2081T>C
NR_148392.2:n.2299T>C
NR_148393.2:n.2220T>C
NR_148394.2:n.1974T>C
NR_148395.2:n.2372T>C
NR_148396.2:n.2006T>C
NR_148397.2:n.2131T>C
NR_148398.2:n.2086T>C
NR_148399.2:n.2612T>C
NR_148400.2:n.2211T>C