Canonical Allele Identifier: CA467424206

Gene: POMT1

Linked Data

• dbSNP Id: rs1344120488
• gnomAD v2: 9-134398424-A-C
• gnomAD v4: 9-131523037-A-C
• MyVariant Identifiers: chr9:g.134398424A>C (hg19) ; chr9:g.131523037A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523037A>C , CM000671.2:g.131523037A>C	GRCh38
NC_000009.11:g.134398424A>C , CM000671.1:g.134398424A>C	GRCh37
NC_000009.10:g.133388245A>C	NCBI36
NG_008896.1:g.25136A>C
NG_008896.2:g.25136A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1947A>C	ENSP00000343034.7:p.Ser649=
ENST00000404875.7:n.2649A>C
ENST00000423007.6:c.2166A>C	ENSP00000404119.2:p.Ser722=
ENST00000677295.2:c.*2453A>C	ENSP00000504346.2:n.*2453A>C
ENST00000678264.2:c.*2292A>C	ENSP00000503157.2:n.*2292A>C
ENST00000682070.1:n.2419A>C
ENST00000682639.1:c.106A>C
ENST00000682813.1:n.2506A>C
ENST00000683231.1:c.106A>C
ENST00000683392.1:n.4701A>C
ENST00000683712.1:n.2514A>C
ENST00000683900.1:n.4009A>C
ENST00000684062.1:n.2775A>C
ENST00000684399.1:c.106A>C
ENST00000684579.1:n.3955A>C
ENST00000341012.12:c.1947A>C	ENSP00000343034.7:p.Ser649=
ENST00000372220.5:c.978A>C	ENSP00000361294.5:p.Ser326=
ENST00000372228.9:c.2175A>C	ENSP00000361302.3:p.Ser725=
ENST00000402686.8:c.2109A>C MANE Select	ENSP00000385797.4:p.Ser703=
ENST00000676640.1:c.2109A>C	ENSP00000503281.1:p.Ser703=
ENST00000676803.1:c.1170A>C	ENSP00000503093.1:p.Ser390=
ENST00000676835.1:c.*1324A>C	ENSP00000502911.1:n.*1324A>C
ENST00000677029.1:c.1653A>C	ENSP00000502936.1:p.Ser551=
ENST00000677099.1:c.*1819A>C	ENSP00000504553.1:n.*1819A>C
ENST00000677216.1:c.1758A>C	ENSP00000503772.1:p.Ser586=
ENST00000677295.1:c.*1331A>C	ENSP00000504346.1:n.*1331A>C
ENST00000677444.1:c.2054A>C
ENST00000677586.1:n.1476A>C
ENST00000677626.1:c.1758A>C	ENSP00000503552.1:p.Ser586=
ENST00000677853.1:c.*1117A>C	ENSP00000503488.1:n.*1117A>C
ENST00000678264.1:c.*1486A>C	ENSP00000503157.1:n.*1486A>C
ENST00000678303.1:c.2019A>C	ENSP00000503696.1:p.Ser673=
ENST00000678366.1:c.*2358A>C	ENSP00000504353.1:n.*2358A>C
ENST00000678546.1:c.*2054A>C	ENSP00000503062.1:n.*2054A>C
ENST00000678548.1:c.*2248A>C	ENSP00000503934.1:n.*2248A>C
ENST00000678626.1:n.1945A>C
ENST00000678739.1:c.*2275A>C	ENSP00000503806.1:n.*2275A>C
ENST00000678833.1:c.*1861A>C	ENSP00000503893.1:n.*1861A>C
ENST00000679023.1:c.1947A>C	ENSP00000503718.1:p.Ser649=
ENST00000679076.1:c.1728A>C
ENST00000679111.1:c.*865A>C	ENSP00000504257.1:n.*865A>C
ENST00000679189.1:c.1758A>C	ENSP00000503356.1:p.Ser586=
ENST00000341012.11:c.1947A>C	ENSP00000343034.7:p.Ser649=
ENST00000372220.4:c.972A>C	ENSP00000361294.4:p.Ser324=
ENST00000372228.7:c.2175A>C	ENSP00000361302.3:p.Ser725=
ENST00000402686.7:c.2109A>C	ENSP00000385797.3:p.Ser703=
ENST00000404875.6:c.1758A>C	ENSP00000384531.2:p.Ser586=
ENST00000423007.5:c.2109A>C	ENSP00000404119.1:p.Ser703=
ENST00000485278.5:n.2659A>C
NM_001077365.1:c.2109A>C	NP_001070833.1:p.Ser703=
NM_001077366.1:c.1947A>C	NP_001070834.1:p.Ser649=
NM_001136113.1:c.2109A>C	NP_001129585.1:p.Ser703=
NM_001136114.1:c.1758A>C	NP_001129586.1:p.Ser586=
NM_007171.3:c.2175A>C	NP_009102.3:p.Ser725=
XM_005272156.1:c.2175A>C	XP_005272213.1:p.Ser725=
XM_005272158.1:c.2013A>C	XP_005272215.1:p.Ser671=
XM_005272159.1:c.1824A>C	XP_005272216.1:p.Ser608=
XM_005272162.1:c.978A>C	XP_005272219.1:p.Ser326=
XM_006716932.1:c.1824A>C	XP_006716995.1:p.Ser608=
XM_011518140.1:c.2028A>C	XP_011516442.1:p.Ser676=
XM_011518141.1:c.1962A>C	XP_011516443.1:p.Ser654=
XM_011518142.1:c.1866A>C	XP_011516444.1:p.Ser622=
XM_011518143.1:c.1860A>C	XP_011516445.1:p.Ser620=
XM_011518145.1:c.1719A>C	XP_011516447.1:p.Ser573=
XM_011518147.1:c.1047A>C	XP_011516449.1:p.Ser349=
XR_929703.1:n.2351A>C
NM_001353193.1:c.2175A>C	NP_001340122.1:p.Ser725=
NM_001353194.1:c.1947A>C	NP_001340123.1:p.Ser649=
NM_001353195.1:c.1758A>C	NP_001340124.1:p.Ser586=
NM_001353196.1:c.2019A>C	NP_001340125.1:p.Ser673=
NM_001353197.1:c.2013A>C	NP_001340126.1:p.Ser671=
NM_001353198.1:c.2013A>C	NP_001340127.1:p.Ser671=
NM_001353199.1:c.1824A>C	NP_001340128.1:p.Ser608=
NM_001353200.1:c.1653A>C	NP_001340129.1:p.Ser551=
NR_148391.1:n.2159A>C
NR_148392.1:n.2377A>C
NR_148393.1:n.2298A>C
NR_148394.1:n.2052A>C
NR_148395.1:n.2450A>C
NR_148396.1:n.2084A>C
NR_148397.1:n.2209A>C
NR_148398.1:n.2164A>C
NR_148399.1:n.2690A>C
NR_148400.1:n.2289A>C
XM_005272162.3:c.978A>C	XP_005272219.1:p.Ser326=
XM_006716932.2:c.1824A>C	XP_006716995.1:p.Ser608=
XM_011518140.2:c.2028A>C	XP_011516442.1:p.Ser676=
XM_011518141.2:c.1962A>C	XP_011516443.1:p.Ser654=
XM_011518142.2:c.1866A>C	XP_011516444.1:p.Ser622=
XM_011518143.2:c.1860A>C	XP_011516445.1:p.Ser620=
XM_011518145.2:c.1719A>C	XP_011516447.1:p.Ser573=
XM_017014205.2:c.978A>C	XP_016869694.1:p.Ser326=
XM_024447380.1:c.978A>C	XP_024303148.1:p.Ser326=
XM_024447381.1:c.1284A>C	XP_024303149.1:p.Ser428=
XM_024447382.1:c.978A>C	XP_024303150.1:p.Ser326=
XR_001746160.2:n.2279A>C
XR_001746162.2:n.2484A>C
XR_001746164.1:n.2201A>C
XR_001746166.2:n.2496A>C
NM_001077365.2:c.2109A>C MANE Select	NP_001070833.1:p.Ser703=
NM_001077366.2:c.1947A>C	NP_001070834.1:p.Ser649=
NM_001136113.2:c.2109A>C	NP_001129585.1:p.Ser703=
NM_001136114.2:c.1758A>C	NP_001129586.1:p.Ser586=
NM_001353193.2:c.2175A>C	NP_001340122.2:p.Ser725=
NM_001353194.2:c.1947A>C	NP_001340123.1:p.Ser649=
NM_001353195.2:c.1758A>C	NP_001340124.1:p.Ser586=
NM_001353196.2:c.2019A>C	NP_001340125.1:p.Ser673=
NM_001353197.2:c.2013A>C	NP_001340126.2:p.Ser671=
NM_001353198.2:c.2013A>C	NP_001340127.2:p.Ser671=
NM_001353199.2:c.1824A>C	NP_001340128.2:p.Ser608=
NM_001353200.2:c.1653A>C	NP_001340129.1:p.Ser551=
NM_001374689.1:c.2097A>C	NP_001361618.1:p.Ser699=
NM_001374690.1:c.1890A>C	NP_001361619.1:p.Ser630=
NM_001374691.1:c.1758A>C	NP_001361620.1:p.Ser586=
NM_001374692.1:c.1758A>C	NP_001361621.1:p.Ser586=
NM_001374693.1:c.1758A>C	NP_001361622.1:p.Ser586=
NM_001374695.1:c.1719A>C	NP_001361624.1:p.Ser573=
NM_007171.4:c.2175A>C	NP_009102.4:p.Ser725=
NR_148391.2:n.2143A>C
NR_148392.2:n.2361A>C
NR_148393.2:n.2282A>C
NR_148394.2:n.2036A>C
NR_148395.2:n.2434A>C
NR_148396.2:n.2068A>C
NR_148397.2:n.2193A>C
NR_148398.2:n.2148A>C
NR_148399.2:n.2674A>C
NR_148400.2:n.2273A>C