Canonical Allele Identifier: CA375315271

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398422T>G (hg19) ; chr9:g.131523035T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523035T>G , CM000671.2:g.131523035T>G	GRCh38
NC_000009.11:g.134398422T>G , CM000671.1:g.134398422T>G	GRCh37
NC_000009.10:g.133388243T>G	NCBI36
NG_008896.1:g.25134T>G
NG_008896.2:g.25134T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1945T>G	ENSP00000343034.7:p.Ser649Ala
ENST00000404875.7:n.2647T>G
ENST00000423007.6:c.2164T>G	ENSP00000404119.2:p.Ser722Ala
ENST00000677295.2:c.*2451T>G	ENSP00000504346.2:n.*2451T>G
ENST00000678264.2:c.*2290T>G	ENSP00000503157.2:n.*2290T>G
ENST00000682070.1:n.2417T>G
ENST00000682639.1:c.104T>G
ENST00000682813.1:n.2504T>G
ENST00000683231.1:c.104T>G
ENST00000683392.1:n.4699T>G
ENST00000683712.1:n.2512T>G
ENST00000683900.1:n.4007T>G
ENST00000684062.1:n.2773T>G
ENST00000684399.1:c.104T>G
ENST00000684579.1:n.3953T>G
ENST00000341012.12:c.1945T>G	ENSP00000343034.7:p.Ser649Ala
ENST00000372220.5:c.976T>G	ENSP00000361294.5:p.Ser326Ala
ENST00000372228.9:c.2173T>G	ENSP00000361302.3:p.Ser725Ala
ENST00000402686.8:c.2107T>G MANE Select	ENSP00000385797.4:p.Ser703Ala
ENST00000676640.1:c.2107T>G	ENSP00000503281.1:p.Ser703Ala
ENST00000676803.1:c.1168T>G	ENSP00000503093.1:p.Ser390Ala
ENST00000676835.1:c.*1322T>G	ENSP00000502911.1:n.*1322T>G
ENST00000677029.1:c.1651T>G	ENSP00000502936.1:p.Ser551Ala
ENST00000677099.1:c.*1817T>G	ENSP00000504553.1:n.*1817T>G
ENST00000677216.1:c.1756T>G	ENSP00000503772.1:p.Ser586Ala
ENST00000677295.1:c.*1329T>G	ENSP00000504346.1:n.*1329T>G
ENST00000677444.1:c.2052T>G
ENST00000677586.1:n.1474T>G
ENST00000677626.1:c.1756T>G	ENSP00000503552.1:p.Ser586Ala
ENST00000677853.1:c.*1115T>G	ENSP00000503488.1:n.*1115T>G
ENST00000678264.1:c.*1484T>G	ENSP00000503157.1:n.*1484T>G
ENST00000678303.1:c.2017T>G	ENSP00000503696.1:p.Ser673Ala
ENST00000678366.1:c.*2356T>G	ENSP00000504353.1:n.*2356T>G
ENST00000678546.1:c.*2052T>G	ENSP00000503062.1:n.*2052T>G
ENST00000678548.1:c.*2246T>G	ENSP00000503934.1:n.*2246T>G
ENST00000678626.1:n.1943T>G
ENST00000678739.1:c.*2273T>G	ENSP00000503806.1:n.*2273T>G
ENST00000678833.1:c.*1859T>G	ENSP00000503893.1:n.*1859T>G
ENST00000679023.1:c.1945T>G	ENSP00000503718.1:p.Ser649Ala
ENST00000679076.1:c.1726T>G
ENST00000679111.1:c.*863T>G	ENSP00000504257.1:n.*863T>G
ENST00000679189.1:c.1756T>G	ENSP00000503356.1:p.Ser586Ala
ENST00000341012.11:c.1945T>G	ENSP00000343034.7:p.Ser649Ala
ENST00000372220.4:c.970T>G	ENSP00000361294.4:p.Ser324Ala
ENST00000372228.7:c.2173T>G	ENSP00000361302.3:p.Ser725Ala
ENST00000402686.7:c.2107T>G	ENSP00000385797.3:p.Ser703Ala
ENST00000404875.6:c.1756T>G	ENSP00000384531.2:p.Ser586Ala
ENST00000423007.5:c.2107T>G	ENSP00000404119.1:p.Ser703Ala
ENST00000485278.5:n.2657T>G
NM_001077365.1:c.2107T>G	NP_001070833.1:p.Ser703Ala
NM_001077366.1:c.1945T>G	NP_001070834.1:p.Ser649Ala
NM_001136113.1:c.2107T>G	NP_001129585.1:p.Ser703Ala
NM_001136114.1:c.1756T>G	NP_001129586.1:p.Ser586Ala
NM_007171.3:c.2173T>G	NP_009102.3:p.Ser725Ala
XM_005272156.1:c.2173T>G	XP_005272213.1:p.Ser725Ala
XM_005272158.1:c.2011T>G	XP_005272215.1:p.Ser671Ala
XM_005272159.1:c.1822T>G	XP_005272216.1:p.Ser608Ala
XM_005272162.1:c.976T>G	XP_005272219.1:p.Ser326Ala
XM_006716932.1:c.1822T>G	XP_006716995.1:p.Ser608Ala
XM_011518140.1:c.2026T>G	XP_011516442.1:p.Ser676Ala
XM_011518141.1:c.1960T>G	XP_011516443.1:p.Ser654Ala
XM_011518142.1:c.1864T>G	XP_011516444.1:p.Ser622Ala
XM_011518143.1:c.1858T>G	XP_011516445.1:p.Ser620Ala
XM_011518145.1:c.1717T>G	XP_011516447.1:p.Ser573Ala
XM_011518147.1:c.1045T>G	XP_011516449.1:p.Ser349Ala
XR_929703.1:n.2349T>G
NM_001353193.1:c.2173T>G	NP_001340122.1:p.Ser725Ala
NM_001353194.1:c.1945T>G	NP_001340123.1:p.Ser649Ala
NM_001353195.1:c.1756T>G	NP_001340124.1:p.Ser586Ala
NM_001353196.1:c.2017T>G	NP_001340125.1:p.Ser673Ala
NM_001353197.1:c.2011T>G	NP_001340126.1:p.Ser671Ala
NM_001353198.1:c.2011T>G	NP_001340127.1:p.Ser671Ala
NM_001353199.1:c.1822T>G	NP_001340128.1:p.Ser608Ala
NM_001353200.1:c.1651T>G	NP_001340129.1:p.Ser551Ala
NR_148391.1:n.2157T>G
NR_148392.1:n.2375T>G
NR_148393.1:n.2296T>G
NR_148394.1:n.2050T>G
NR_148395.1:n.2448T>G
NR_148396.1:n.2082T>G
NR_148397.1:n.2207T>G
NR_148398.1:n.2162T>G
NR_148399.1:n.2688T>G
NR_148400.1:n.2287T>G
XM_005272162.3:c.976T>G	XP_005272219.1:p.Ser326Ala
XM_006716932.2:c.1822T>G	XP_006716995.1:p.Ser608Ala
XM_011518140.2:c.2026T>G	XP_011516442.1:p.Ser676Ala
XM_011518141.2:c.1960T>G	XP_011516443.1:p.Ser654Ala
XM_011518142.2:c.1864T>G	XP_011516444.1:p.Ser622Ala
XM_011518143.2:c.1858T>G	XP_011516445.1:p.Ser620Ala
XM_011518145.2:c.1717T>G	XP_011516447.1:p.Ser573Ala
XM_017014205.2:c.976T>G	XP_016869694.1:p.Ser326Ala
XM_024447380.1:c.976T>G	XP_024303148.1:p.Ser326Ala
XM_024447381.1:c.1282T>G	XP_024303149.1:p.Ser428Ala
XM_024447382.1:c.976T>G	XP_024303150.1:p.Ser326Ala
XR_001746160.2:n.2277T>G
XR_001746162.2:n.2482T>G
XR_001746164.1:n.2199T>G
XR_001746166.2:n.2494T>G
NM_001077365.2:c.2107T>G MANE Select	NP_001070833.1:p.Ser703Ala
NM_001077366.2:c.1945T>G	NP_001070834.1:p.Ser649Ala
NM_001136113.2:c.2107T>G	NP_001129585.1:p.Ser703Ala
NM_001136114.2:c.1756T>G	NP_001129586.1:p.Ser586Ala
NM_001353193.2:c.2173T>G	NP_001340122.2:p.Ser725Ala
NM_001353194.2:c.1945T>G	NP_001340123.1:p.Ser649Ala
NM_001353195.2:c.1756T>G	NP_001340124.1:p.Ser586Ala
NM_001353196.2:c.2017T>G	NP_001340125.1:p.Ser673Ala
NM_001353197.2:c.2011T>G	NP_001340126.2:p.Ser671Ala
NM_001353198.2:c.2011T>G	NP_001340127.2:p.Ser671Ala
NM_001353199.2:c.1822T>G	NP_001340128.2:p.Ser608Ala
NM_001353200.2:c.1651T>G	NP_001340129.1:p.Ser551Ala
NM_001374689.1:c.2095T>G	NP_001361618.1:p.Ser699Ala
NM_001374690.1:c.1888T>G	NP_001361619.1:p.Ser630Ala
NM_001374691.1:c.1756T>G	NP_001361620.1:p.Ser586Ala
NM_001374692.1:c.1756T>G	NP_001361621.1:p.Ser586Ala
NM_001374693.1:c.1756T>G	NP_001361622.1:p.Ser586Ala
NM_001374695.1:c.1717T>G	NP_001361624.1:p.Ser573Ala
NM_007171.4:c.2173T>G	NP_009102.4:p.Ser725Ala
NR_148391.2:n.2141T>G
NR_148392.2:n.2359T>G
NR_148393.2:n.2280T>G
NR_148394.2:n.2034T>G
NR_148395.2:n.2432T>G
NR_148396.2:n.2066T>G
NR_148397.2:n.2191T>G
NR_148398.2:n.2146T>G
NR_148399.2:n.2672T>G
NR_148400.2:n.2271T>G