Canonical Allele Identifier: CA375315087

Gene: POMT1

Linked Data

• ClinVar Variation Id: 3216744
• ClinVar RCV Id: RCV004514607
• MyVariant Identifiers: chr9:g.134398371T>G (hg19) ; chr9:g.131522984T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522984T>G , CM000671.2:g.131522984T>G	GRCh38
NC_000009.11:g.134398371T>G , CM000671.1:g.134398371T>G	GRCh37
NC_000009.10:g.133388192T>G	NCBI36
NG_008896.1:g.25083T>G
NG_008896.2:g.25083T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1894T>G	ENSP00000343034.7:p.Ser632Ala
ENST00000404875.7:n.2596T>G
ENST00000423007.6:c.2113T>G	ENSP00000404119.2:p.Ser705Ala
ENST00000677295.2:c.*2400T>G	ENSP00000504346.2:n.*2400T>G
ENST00000678264.2:c.*2239T>G	ENSP00000503157.2:n.*2239T>G
ENST00000682070.1:n.2366T>G
ENST00000682639.1:c.53T>G
ENST00000682813.1:n.2453T>G
ENST00000683231.1:c.53T>G
ENST00000683392.1:n.4648T>G
ENST00000683712.1:n.2461T>G
ENST00000683900.1:n.3956T>G
ENST00000684062.1:n.2722T>G
ENST00000684399.1:c.53T>G
ENST00000684579.1:n.3902T>G
ENST00000341012.12:c.1894T>G	ENSP00000343034.7:p.Ser632Ala
ENST00000372220.5:c.925T>G	ENSP00000361294.5:p.Ser309Ala
ENST00000372228.9:c.2122T>G	ENSP00000361302.3:p.Ser708Ala
ENST00000402686.8:c.2056T>G MANE Select	ENSP00000385797.4:p.Ser686Ala
ENST00000676640.1:c.2056T>G	ENSP00000503281.1:p.Ser686Ala
ENST00000676803.1:c.1117T>G	ENSP00000503093.1:p.Ser373Ala
ENST00000676835.1:c.*1271T>G	ENSP00000502911.1:n.*1271T>G
ENST00000677029.1:c.1600T>G	ENSP00000502936.1:p.Ser534Ala
ENST00000677099.1:c.*1766T>G	ENSP00000504553.1:n.*1766T>G
ENST00000677216.1:c.1705T>G	ENSP00000503772.1:p.Ser569Ala
ENST00000677221.1:n.1081T>G
ENST00000677295.1:c.*1278T>G	ENSP00000504346.1:n.*1278T>G
ENST00000677444.1:c.2001T>G
ENST00000677586.1:n.1423T>G
ENST00000677626.1:c.1705T>G	ENSP00000503552.1:p.Ser569Ala
ENST00000677853.1:c.*1064T>G	ENSP00000503488.1:n.*1064T>G
ENST00000678264.1:c.*1433T>G	ENSP00000503157.1:n.*1433T>G
ENST00000678303.1:c.1966T>G	ENSP00000503696.1:p.Ser656Ala
ENST00000678366.1:c.*2305T>G	ENSP00000504353.1:n.*2305T>G
ENST00000678546.1:c.*2001T>G	ENSP00000503062.1:n.*2001T>G
ENST00000678548.1:c.*2195T>G	ENSP00000503934.1:n.*2195T>G
ENST00000678626.1:n.1892T>G
ENST00000678739.1:c.*2222T>G	ENSP00000503806.1:n.*2222T>G
ENST00000678833.1:c.*1808T>G	ENSP00000503893.1:n.*1808T>G
ENST00000679023.1:c.1894T>G	ENSP00000503718.1:p.Ser632Ala
ENST00000679076.1:c.1675T>G
ENST00000679111.1:c.*812T>G	ENSP00000504257.1:n.*812T>G
ENST00000679189.1:c.1705T>G	ENSP00000503356.1:p.Ser569Ala
ENST00000341012.11:c.1894T>G	ENSP00000343034.7:p.Ser632Ala
ENST00000372220.4:c.919T>G	ENSP00000361294.4:p.Ser307Ala
ENST00000372228.7:c.2122T>G	ENSP00000361302.3:p.Ser708Ala
ENST00000402686.7:c.2056T>G	ENSP00000385797.3:p.Ser686Ala
ENST00000404875.6:c.1705T>G	ENSP00000384531.2:p.Ser569Ala
ENST00000423007.5:c.2056T>G	ENSP00000404119.1:p.Ser686Ala
ENST00000485278.5:n.2606T>G
NM_001077365.1:c.2056T>G	NP_001070833.1:p.Ser686Ala
NM_001077366.1:c.1894T>G	NP_001070834.1:p.Ser632Ala
NM_001136113.1:c.2056T>G	NP_001129585.1:p.Ser686Ala
NM_001136114.1:c.1705T>G	NP_001129586.1:p.Ser569Ala
NM_007171.3:c.2122T>G	NP_009102.3:p.Ser708Ala
XM_005272156.1:c.2122T>G	XP_005272213.1:p.Ser708Ala
XM_005272158.1:c.1960T>G	XP_005272215.1:p.Ser654Ala
XM_005272159.1:c.1771T>G	XP_005272216.1:p.Ser591Ala
XM_005272162.1:c.925T>G	XP_005272219.1:p.Ser309Ala
XM_006716932.1:c.1771T>G	XP_006716995.1:p.Ser591Ala
XM_011518140.1:c.1975T>G	XP_011516442.1:p.Ser659Ala
XM_011518141.1:c.1909T>G	XP_011516443.1:p.Ser637Ala
XM_011518142.1:c.1813T>G	XP_011516444.1:p.Ser605Ala
XM_011518143.1:c.1807T>G	XP_011516445.1:p.Ser603Ala
XM_011518145.1:c.1666T>G	XP_011516447.1:p.Ser556Ala
XM_011518147.1:c.994T>G	XP_011516449.1:p.Ser332Ala
XR_929703.1:n.2298T>G
NM_001353193.1:c.2122T>G	NP_001340122.1:p.Ser708Ala
NM_001353194.1:c.1894T>G	NP_001340123.1:p.Ser632Ala
NM_001353195.1:c.1705T>G	NP_001340124.1:p.Ser569Ala
NM_001353196.1:c.1966T>G	NP_001340125.1:p.Ser656Ala
NM_001353197.1:c.1960T>G	NP_001340126.1:p.Ser654Ala
NM_001353198.1:c.1960T>G	NP_001340127.1:p.Ser654Ala
NM_001353199.1:c.1771T>G	NP_001340128.1:p.Ser591Ala
NM_001353200.1:c.1600T>G	NP_001340129.1:p.Ser534Ala
NR_148391.1:n.2106T>G
NR_148392.1:n.2324T>G
NR_148393.1:n.2245T>G
NR_148394.1:n.1999T>G
NR_148395.1:n.2397T>G
NR_148396.1:n.2031T>G
NR_148397.1:n.2156T>G
NR_148398.1:n.2111T>G
NR_148399.1:n.2637T>G
NR_148400.1:n.2236T>G
XM_005272162.3:c.925T>G	XP_005272219.1:p.Ser309Ala
XM_006716932.2:c.1771T>G	XP_006716995.1:p.Ser591Ala
XM_011518140.2:c.1975T>G	XP_011516442.1:p.Ser659Ala
XM_011518141.2:c.1909T>G	XP_011516443.1:p.Ser637Ala
XM_011518142.2:c.1813T>G	XP_011516444.1:p.Ser605Ala
XM_011518143.2:c.1807T>G	XP_011516445.1:p.Ser603Ala
XM_011518145.2:c.1666T>G	XP_011516447.1:p.Ser556Ala
XM_017014205.2:c.925T>G	XP_016869694.1:p.Ser309Ala
XM_024447380.1:c.925T>G	XP_024303148.1:p.Ser309Ala
XM_024447381.1:c.1231T>G	XP_024303149.1:p.Ser411Ala
XM_024447382.1:c.925T>G	XP_024303150.1:p.Ser309Ala
XR_001746160.2:n.2226T>G
XR_001746162.2:n.2431T>G
XR_001746164.1:n.2148T>G
XR_001746166.2:n.2443T>G
NM_001077365.2:c.2056T>G MANE Select	NP_001070833.1:p.Ser686Ala
NM_001077366.2:c.1894T>G	NP_001070834.1:p.Ser632Ala
NM_001136113.2:c.2056T>G	NP_001129585.1:p.Ser686Ala
NM_001136114.2:c.1705T>G	NP_001129586.1:p.Ser569Ala
NM_001353193.2:c.2122T>G	NP_001340122.2:p.Ser708Ala
NM_001353194.2:c.1894T>G	NP_001340123.1:p.Ser632Ala
NM_001353195.2:c.1705T>G	NP_001340124.1:p.Ser569Ala
NM_001353196.2:c.1966T>G	NP_001340125.1:p.Ser656Ala
NM_001353197.2:c.1960T>G	NP_001340126.2:p.Ser654Ala
NM_001353198.2:c.1960T>G	NP_001340127.2:p.Ser654Ala
NM_001353199.2:c.1771T>G	NP_001340128.2:p.Ser591Ala
NM_001353200.2:c.1600T>G	NP_001340129.1:p.Ser534Ala
NM_001374689.1:c.2044T>G	NP_001361618.1:p.Ser682Ala
NM_001374690.1:c.1837T>G	NP_001361619.1:p.Ser613Ala
NM_001374691.1:c.1705T>G	NP_001361620.1:p.Ser569Ala
NM_001374692.1:c.1705T>G	NP_001361621.1:p.Ser569Ala
NM_001374693.1:c.1705T>G	NP_001361622.1:p.Ser569Ala
NM_001374695.1:c.1666T>G	NP_001361624.1:p.Ser556Ala
NM_007171.4:c.2122T>G	NP_009102.4:p.Ser708Ala
NR_148391.2:n.2090T>G
NR_148392.2:n.2308T>G
NR_148393.2:n.2229T>G
NR_148394.2:n.1983T>G
NR_148395.2:n.2381T>G
NR_148396.2:n.2015T>G
NR_148397.2:n.2140T>G
NR_148398.2:n.2095T>G
NR_148399.2:n.2621T>G
NR_148400.2:n.2220T>G