Canonical Allele Identifier: CA375315445

Gene: POMT1

Linked Data

• gnomAD v4: 9-131523082-G-C
• MyVariant Identifiers: chr9:g.134398469G>C (hg19) ; chr9:g.131523082G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523082G>C , CM000671.2:g.131523082G>C	GRCh38
NC_000009.11:g.134398469G>C , CM000671.1:g.134398469G>C	GRCh37
NC_000009.10:g.133388290G>C	NCBI36
NG_008896.1:g.25181G>C
NG_008896.2:g.25181G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1992G>C	ENSP00000343034.7:p.Trp664Cys
ENST00000404875.7:n.2694G>C
ENST00000423007.6:c.2211G>C	ENSP00000404119.2:p.Trp737Cys
ENST00000677295.2:c.*2498G>C	ENSP00000504346.2:n.*2498G>C
ENST00000678264.2:c.*2337G>C	ENSP00000503157.2:n.*2337G>C
ENST00000682070.1:n.2464G>C
ENST00000682639.1:c.151G>C
ENST00000682813.1:n.2551G>C
ENST00000683231.1:c.151G>C
ENST00000683392.1:n.4746G>C
ENST00000683712.1:n.2559G>C
ENST00000683900.1:n.4054G>C
ENST00000684062.1:n.2820G>C
ENST00000684399.1:c.151G>C
ENST00000684579.1:n.4000G>C
ENST00000341012.12:c.1992G>C	ENSP00000343034.7:p.Trp664Cys
ENST00000372220.5:c.1023G>C	ENSP00000361294.5:p.Trp341Cys
ENST00000372228.9:c.2220G>C	ENSP00000361302.3:p.Trp740Cys
ENST00000402686.8:c.2154G>C MANE Select	ENSP00000385797.4:p.Trp718Cys
ENST00000676640.1:c.2154G>C	ENSP00000503281.1:p.Trp718Cys
ENST00000676803.1:c.1215G>C	ENSP00000503093.1:p.Trp405Cys
ENST00000676835.1:c.*1369G>C	ENSP00000502911.1:n.*1369G>C
ENST00000677029.1:c.1698G>C	ENSP00000502936.1:p.Trp566Cys
ENST00000677099.1:c.*1864G>C	ENSP00000504553.1:n.*1864G>C
ENST00000677216.1:c.1803G>C	ENSP00000503772.1:p.Trp601Cys
ENST00000677295.1:c.*1376G>C	ENSP00000504346.1:n.*1376G>C
ENST00000677444.1:c.2099G>C
ENST00000677586.1:n.1521G>C
ENST00000677626.1:c.1803G>C	ENSP00000503552.1:p.Trp601Cys
ENST00000677853.1:c.*1162G>C	ENSP00000503488.1:n.*1162G>C
ENST00000678264.1:c.*1531G>C	ENSP00000503157.1:n.*1531G>C
ENST00000678303.1:c.2064G>C	ENSP00000503696.1:p.Trp688Cys
ENST00000678366.1:c.*2403G>C	ENSP00000504353.1:n.*2403G>C
ENST00000678546.1:c.*2099G>C	ENSP00000503062.1:n.*2099G>C
ENST00000678548.1:c.*2293G>C	ENSP00000503934.1:n.*2293G>C
ENST00000678626.1:n.1990G>C
ENST00000678739.1:c.*2320G>C	ENSP00000503806.1:n.*2320G>C
ENST00000678833.1:c.*1906G>C	ENSP00000503893.1:n.*1906G>C
ENST00000679023.1:c.1992G>C	ENSP00000503718.1:p.Trp664Cys
ENST00000679076.1:c.1773G>C
ENST00000679111.1:c.*910G>C	ENSP00000504257.1:n.*910G>C
ENST00000679189.1:c.1803G>C	ENSP00000503356.1:p.Trp601Cys
ENST00000341012.11:c.1992G>C	ENSP00000343034.7:p.Trp664Cys
ENST00000372220.4:c.1017G>C	ENSP00000361294.4:p.Trp339Cys
ENST00000372228.7:c.2220G>C	ENSP00000361302.3:p.Trp740Cys
ENST00000402686.7:c.2154G>C	ENSP00000385797.3:p.Trp718Cys
ENST00000404875.6:c.1803G>C	ENSP00000384531.2:p.Trp601Cys
ENST00000423007.5:c.2154G>C	ENSP00000404119.1:p.Trp718Cys
ENST00000485278.5:n.2704G>C
NM_001077365.1:c.2154G>C	NP_001070833.1:p.Trp718Cys
NM_001077366.1:c.1992G>C	NP_001070834.1:p.Trp664Cys
NM_001136113.1:c.2154G>C	NP_001129585.1:p.Trp718Cys
NM_001136114.1:c.1803G>C	NP_001129586.1:p.Trp601Cys
NM_007171.3:c.2220G>C	NP_009102.3:p.Trp740Cys
XM_005272156.1:c.2220G>C	XP_005272213.1:p.Trp740Cys
XM_005272158.1:c.2058G>C	XP_005272215.1:p.Trp686Cys
XM_005272159.1:c.1869G>C	XP_005272216.1:p.Trp623Cys
XM_005272162.1:c.1023G>C	XP_005272219.1:p.Trp341Cys
XM_006716932.1:c.1869G>C	XP_006716995.1:p.Trp623Cys
XM_011518140.1:c.2073G>C	XP_011516442.1:p.Trp691Cys
XM_011518141.1:c.2007G>C	XP_011516443.1:p.Trp669Cys
XM_011518142.1:c.1911G>C	XP_011516444.1:p.Trp637Cys
XM_011518143.1:c.1905G>C	XP_011516445.1:p.Trp635Cys
XM_011518145.1:c.1764G>C	XP_011516447.1:p.Trp588Cys
XM_011518147.1:c.1092G>C	XP_011516449.1:p.Trp364Cys
XR_929703.1:n.2396G>C
NM_001353193.1:c.2220G>C	NP_001340122.1:p.Trp740Cys
NM_001353194.1:c.1992G>C	NP_001340123.1:p.Trp664Cys
NM_001353195.1:c.1803G>C	NP_001340124.1:p.Trp601Cys
NM_001353196.1:c.2064G>C	NP_001340125.1:p.Trp688Cys
NM_001353197.1:c.2058G>C	NP_001340126.1:p.Trp686Cys
NM_001353198.1:c.2058G>C	NP_001340127.1:p.Trp686Cys
NM_001353199.1:c.1869G>C	NP_001340128.1:p.Trp623Cys
NM_001353200.1:c.1698G>C	NP_001340129.1:p.Trp566Cys
NR_148391.1:n.2204G>C
NR_148392.1:n.2422G>C
NR_148393.1:n.2343G>C
NR_148394.1:n.2097G>C
NR_148395.1:n.2495G>C
NR_148396.1:n.2129G>C
NR_148397.1:n.2254G>C
NR_148398.1:n.2209G>C
NR_148399.1:n.2735G>C
NR_148400.1:n.2334G>C
XM_005272162.3:c.1023G>C	XP_005272219.1:p.Trp341Cys
XM_006716932.2:c.1869G>C	XP_006716995.1:p.Trp623Cys
XM_011518140.2:c.2073G>C	XP_011516442.1:p.Trp691Cys
XM_011518141.2:c.2007G>C	XP_011516443.1:p.Trp669Cys
XM_011518142.2:c.1911G>C	XP_011516444.1:p.Trp637Cys
XM_011518143.2:c.1905G>C	XP_011516445.1:p.Trp635Cys
XM_011518145.2:c.1764G>C	XP_011516447.1:p.Trp588Cys
XM_017014205.2:c.1023G>C	XP_016869694.1:p.Trp341Cys
XM_024447380.1:c.1023G>C	XP_024303148.1:p.Trp341Cys
XM_024447381.1:c.1329G>C	XP_024303149.1:p.Trp443Cys
XM_024447382.1:c.1023G>C	XP_024303150.1:p.Trp341Cys
XR_001746160.2:n.2324G>C
XR_001746162.2:n.2529G>C
XR_001746164.1:n.2246G>C
XR_001746166.2:n.2541G>C
NM_001077365.2:c.2154G>C MANE Select	NP_001070833.1:p.Trp718Cys
NM_001077366.2:c.1992G>C	NP_001070834.1:p.Trp664Cys
NM_001136113.2:c.2154G>C	NP_001129585.1:p.Trp718Cys
NM_001136114.2:c.1803G>C	NP_001129586.1:p.Trp601Cys
NM_001353193.2:c.2220G>C	NP_001340122.2:p.Trp740Cys
NM_001353194.2:c.1992G>C	NP_001340123.1:p.Trp664Cys
NM_001353195.2:c.1803G>C	NP_001340124.1:p.Trp601Cys
NM_001353196.2:c.2064G>C	NP_001340125.1:p.Trp688Cys
NM_001353197.2:c.2058G>C	NP_001340126.2:p.Trp686Cys
NM_001353198.2:c.2058G>C	NP_001340127.2:p.Trp686Cys
NM_001353199.2:c.1869G>C	NP_001340128.2:p.Trp623Cys
NM_001353200.2:c.1698G>C	NP_001340129.1:p.Trp566Cys
NM_001374689.1:c.2142G>C	NP_001361618.1:p.Trp714Cys
NM_001374690.1:c.1935G>C	NP_001361619.1:p.Trp645Cys
NM_001374691.1:c.1803G>C	NP_001361620.1:p.Trp601Cys
NM_001374692.1:c.1803G>C	NP_001361621.1:p.Trp601Cys
NM_001374693.1:c.1803G>C	NP_001361622.1:p.Trp601Cys
NM_001374695.1:c.1764G>C	NP_001361624.1:p.Trp588Cys
NM_007171.4:c.2220G>C	NP_009102.4:p.Trp740Cys
NR_148391.2:n.2188G>C
NR_148392.2:n.2406G>C
NR_148393.2:n.2327G>C
NR_148394.2:n.2081G>C
NR_148395.2:n.2479G>C
NR_148396.2:n.2113G>C
NR_148397.2:n.2238G>C
NR_148398.2:n.2193G>C
NR_148399.2:n.2719G>C
NR_148400.2:n.2318G>C