Canonical Allele Identifier: CA375315440

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398468G>C (hg19) ; chr9:g.131523081G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523081G>C , CM000671.2:g.131523081G>C	GRCh38
NC_000009.11:g.134398468G>C , CM000671.1:g.134398468G>C	GRCh37
NC_000009.10:g.133388289G>C	NCBI36
NG_008896.1:g.25180G>C
NG_008896.2:g.25180G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1991G>C	ENSP00000343034.7:p.Trp664Ser
ENST00000404875.7:n.2693G>C
ENST00000423007.6:c.2210G>C	ENSP00000404119.2:p.Trp737Ser
ENST00000677295.2:c.*2497G>C	ENSP00000504346.2:n.*2497G>C
ENST00000678264.2:c.*2336G>C	ENSP00000503157.2:n.*2336G>C
ENST00000682070.1:n.2463G>C
ENST00000682639.1:c.150G>C
ENST00000682813.1:n.2550G>C
ENST00000683231.1:c.150G>C
ENST00000683392.1:n.4745G>C
ENST00000683712.1:n.2558G>C
ENST00000683900.1:n.4053G>C
ENST00000684062.1:n.2819G>C
ENST00000684399.1:c.150G>C
ENST00000684579.1:n.3999G>C
ENST00000341012.12:c.1991G>C	ENSP00000343034.7:p.Trp664Ser
ENST00000372220.5:c.1022G>C	ENSP00000361294.5:p.Trp341Ser
ENST00000372228.9:c.2219G>C	ENSP00000361302.3:p.Trp740Ser
ENST00000402686.8:c.2153G>C MANE Select	ENSP00000385797.4:p.Trp718Ser
ENST00000676640.1:c.2153G>C	ENSP00000503281.1:p.Trp718Ser
ENST00000676803.1:c.1214G>C	ENSP00000503093.1:p.Trp405Ser
ENST00000676835.1:c.*1368G>C	ENSP00000502911.1:n.*1368G>C
ENST00000677029.1:c.1697G>C	ENSP00000502936.1:p.Trp566Ser
ENST00000677099.1:c.*1863G>C	ENSP00000504553.1:n.*1863G>C
ENST00000677216.1:c.1802G>C	ENSP00000503772.1:p.Trp601Ser
ENST00000677295.1:c.*1375G>C	ENSP00000504346.1:n.*1375G>C
ENST00000677444.1:c.2098G>C
ENST00000677586.1:n.1520G>C
ENST00000677626.1:c.1802G>C	ENSP00000503552.1:p.Trp601Ser
ENST00000677853.1:c.*1161G>C	ENSP00000503488.1:n.*1161G>C
ENST00000678264.1:c.*1530G>C	ENSP00000503157.1:n.*1530G>C
ENST00000678303.1:c.2063G>C	ENSP00000503696.1:p.Trp688Ser
ENST00000678366.1:c.*2402G>C	ENSP00000504353.1:n.*2402G>C
ENST00000678546.1:c.*2098G>C	ENSP00000503062.1:n.*2098G>C
ENST00000678548.1:c.*2292G>C	ENSP00000503934.1:n.*2292G>C
ENST00000678626.1:n.1989G>C
ENST00000678739.1:c.*2319G>C	ENSP00000503806.1:n.*2319G>C
ENST00000678833.1:c.*1905G>C	ENSP00000503893.1:n.*1905G>C
ENST00000679023.1:c.1991G>C	ENSP00000503718.1:p.Trp664Ser
ENST00000679076.1:c.1772G>C
ENST00000679111.1:c.*909G>C	ENSP00000504257.1:n.*909G>C
ENST00000679189.1:c.1802G>C	ENSP00000503356.1:p.Trp601Ser
ENST00000341012.11:c.1991G>C	ENSP00000343034.7:p.Trp664Ser
ENST00000372220.4:c.1016G>C	ENSP00000361294.4:p.Trp339Ser
ENST00000372228.7:c.2219G>C	ENSP00000361302.3:p.Trp740Ser
ENST00000402686.7:c.2153G>C	ENSP00000385797.3:p.Trp718Ser
ENST00000404875.6:c.1802G>C	ENSP00000384531.2:p.Trp601Ser
ENST00000423007.5:c.2153G>C	ENSP00000404119.1:p.Trp718Ser
ENST00000485278.5:n.2703G>C
NM_001077365.1:c.2153G>C	NP_001070833.1:p.Trp718Ser
NM_001077366.1:c.1991G>C	NP_001070834.1:p.Trp664Ser
NM_001136113.1:c.2153G>C	NP_001129585.1:p.Trp718Ser
NM_001136114.1:c.1802G>C	NP_001129586.1:p.Trp601Ser
NM_007171.3:c.2219G>C	NP_009102.3:p.Trp740Ser
XM_005272156.1:c.2219G>C	XP_005272213.1:p.Trp740Ser
XM_005272158.1:c.2057G>C	XP_005272215.1:p.Trp686Ser
XM_005272159.1:c.1868G>C	XP_005272216.1:p.Trp623Ser
XM_005272162.1:c.1022G>C	XP_005272219.1:p.Trp341Ser
XM_006716932.1:c.1868G>C	XP_006716995.1:p.Trp623Ser
XM_011518140.1:c.2072G>C	XP_011516442.1:p.Trp691Ser
XM_011518141.1:c.2006G>C	XP_011516443.1:p.Trp669Ser
XM_011518142.1:c.1910G>C	XP_011516444.1:p.Trp637Ser
XM_011518143.1:c.1904G>C	XP_011516445.1:p.Trp635Ser
XM_011518145.1:c.1763G>C	XP_011516447.1:p.Trp588Ser
XM_011518147.1:c.1091G>C	XP_011516449.1:p.Trp364Ser
XR_929703.1:n.2395G>C
NM_001353193.1:c.2219G>C	NP_001340122.1:p.Trp740Ser
NM_001353194.1:c.1991G>C	NP_001340123.1:p.Trp664Ser
NM_001353195.1:c.1802G>C	NP_001340124.1:p.Trp601Ser
NM_001353196.1:c.2063G>C	NP_001340125.1:p.Trp688Ser
NM_001353197.1:c.2057G>C	NP_001340126.1:p.Trp686Ser
NM_001353198.1:c.2057G>C	NP_001340127.1:p.Trp686Ser
NM_001353199.1:c.1868G>C	NP_001340128.1:p.Trp623Ser
NM_001353200.1:c.1697G>C	NP_001340129.1:p.Trp566Ser
NR_148391.1:n.2203G>C
NR_148392.1:n.2421G>C
NR_148393.1:n.2342G>C
NR_148394.1:n.2096G>C
NR_148395.1:n.2494G>C
NR_148396.1:n.2128G>C
NR_148397.1:n.2253G>C
NR_148398.1:n.2208G>C
NR_148399.1:n.2734G>C
NR_148400.1:n.2333G>C
XM_005272162.3:c.1022G>C	XP_005272219.1:p.Trp341Ser
XM_006716932.2:c.1868G>C	XP_006716995.1:p.Trp623Ser
XM_011518140.2:c.2072G>C	XP_011516442.1:p.Trp691Ser
XM_011518141.2:c.2006G>C	XP_011516443.1:p.Trp669Ser
XM_011518142.2:c.1910G>C	XP_011516444.1:p.Trp637Ser
XM_011518143.2:c.1904G>C	XP_011516445.1:p.Trp635Ser
XM_011518145.2:c.1763G>C	XP_011516447.1:p.Trp588Ser
XM_017014205.2:c.1022G>C	XP_016869694.1:p.Trp341Ser
XM_024447380.1:c.1022G>C	XP_024303148.1:p.Trp341Ser
XM_024447381.1:c.1328G>C	XP_024303149.1:p.Trp443Ser
XM_024447382.1:c.1022G>C	XP_024303150.1:p.Trp341Ser
XR_001746160.2:n.2323G>C
XR_001746162.2:n.2528G>C
XR_001746164.1:n.2245G>C
XR_001746166.2:n.2540G>C
NM_001077365.2:c.2153G>C MANE Select	NP_001070833.1:p.Trp718Ser
NM_001077366.2:c.1991G>C	NP_001070834.1:p.Trp664Ser
NM_001136113.2:c.2153G>C	NP_001129585.1:p.Trp718Ser
NM_001136114.2:c.1802G>C	NP_001129586.1:p.Trp601Ser
NM_001353193.2:c.2219G>C	NP_001340122.2:p.Trp740Ser
NM_001353194.2:c.1991G>C	NP_001340123.1:p.Trp664Ser
NM_001353195.2:c.1802G>C	NP_001340124.1:p.Trp601Ser
NM_001353196.2:c.2063G>C	NP_001340125.1:p.Trp688Ser
NM_001353197.2:c.2057G>C	NP_001340126.2:p.Trp686Ser
NM_001353198.2:c.2057G>C	NP_001340127.2:p.Trp686Ser
NM_001353199.2:c.1868G>C	NP_001340128.2:p.Trp623Ser
NM_001353200.2:c.1697G>C	NP_001340129.1:p.Trp566Ser
NM_001374689.1:c.2141G>C	NP_001361618.1:p.Trp714Ser
NM_001374690.1:c.1934G>C	NP_001361619.1:p.Trp645Ser
NM_001374691.1:c.1802G>C	NP_001361620.1:p.Trp601Ser
NM_001374692.1:c.1802G>C	NP_001361621.1:p.Trp601Ser
NM_001374693.1:c.1802G>C	NP_001361622.1:p.Trp601Ser
NM_001374695.1:c.1763G>C	NP_001361624.1:p.Trp588Ser
NM_007171.4:c.2219G>C	NP_009102.4:p.Trp740Ser
NR_148391.2:n.2187G>C
NR_148392.2:n.2405G>C
NR_148393.2:n.2326G>C
NR_148394.2:n.2080G>C
NR_148395.2:n.2478G>C
NR_148396.2:n.2112G>C
NR_148397.2:n.2237G>C
NR_148398.2:n.2192G>C
NR_148399.2:n.2718G>C
NR_148400.2:n.2317G>C