Canonical Allele Identifier: CA467424137

Gene: POMT1

Linked Data

• gnomAD v4: 9-131522935-C-A
• MyVariant Identifiers: chr9:g.134398322C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522935C>A , CM000671.2:g.131522935C>A	GRCh38
NC_000009.11:g.134398322C>A , CM000671.1:g.134398322C>A	GRCh37
NC_000009.10:g.133388143C>A	NCBI36
NG_008896.1:g.25034C>A
NG_008896.2:g.25034C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1845C>A	ENSP00000343034.7:p.Ser615=
ENST00000404875.7:n.2547C>A
ENST00000423007.6:c.2064C>A	ENSP00000404119.2:p.Ser688=
ENST00000677295.2:c.*2351C>A	ENSP00000504346.2:n.*2351C>A
ENST00000678264.2:c.*2190C>A	ENSP00000503157.2:n.*2190C>A
ENST00000682070.1:n.2317C>A
ENST00000682639.1:c.4C>A
ENST00000682813.1:n.2408-4C>A
ENST00000683231.1:c.4C>A
ENST00000683392.1:n.4599C>A
ENST00000683712.1:n.2412C>A
ENST00000683900.1:n.3907C>A
ENST00000684062.1:n.2673C>A
ENST00000684399.1:c.4C>A
ENST00000684579.1:n.3853C>A
ENST00000341012.12:c.1845C>A	ENSP00000343034.7:p.Ser615=
ENST00000372220.5:c.876C>A	ENSP00000361294.5:p.Ser292=
ENST00000372228.9:c.2073C>A	ENSP00000361302.3:p.Ser691=
ENST00000402686.8:c.2007C>A MANE Select	ENSP00000385797.4:p.Ser669=
ENST00000676640.1:c.2007C>A	ENSP00000503281.1:p.Ser669=
ENST00000676803.1:c.1068C>A	ENSP00000503093.1:p.Ser356=
ENST00000676835.1:c.*1222C>A	ENSP00000502911.1:n.*1222C>A
ENST00000677029.1:c.1551C>A	ENSP00000502936.1:p.Ser517=
ENST00000677099.1:c.*1717C>A	ENSP00000504553.1:n.*1717C>A
ENST00000677216.1:c.1656C>A	ENSP00000503772.1:p.Ser552=
ENST00000677221.1:n.1032C>A
ENST00000677295.1:c.*1229C>A	ENSP00000504346.1:n.*1229C>A
ENST00000677444.1:c.1952C>A
ENST00000677586.1:n.1374C>A
ENST00000677626.1:c.1656C>A	ENSP00000503552.1:p.Ser552=
ENST00000677853.1:c.*1015C>A	ENSP00000503488.1:n.*1015C>A
ENST00000678264.1:c.*1384C>A	ENSP00000503157.1:n.*1384C>A
ENST00000678303.1:c.1917C>A	ENSP00000503696.1:p.Ser639=
ENST00000678366.1:c.*2256C>A	ENSP00000504353.1:n.*2256C>A
ENST00000678546.1:c.*1952C>A	ENSP00000503062.1:n.*1952C>A
ENST00000678548.1:c.*2146C>A	ENSP00000503934.1:n.*2146C>A
ENST00000678626.1:n.1843C>A
ENST00000678739.1:c.*2173C>A	ENSP00000503806.1:n.*2173C>A
ENST00000678833.1:c.*1759C>A	ENSP00000503893.1:n.*1759C>A
ENST00000679023.1:c.1845C>A	ENSP00000503718.1:p.Ser615=
ENST00000679076.1:c.1626C>A
ENST00000679111.1:c.*763C>A	ENSP00000504257.1:n.*763C>A
ENST00000679189.1:c.1656C>A	ENSP00000503356.1:p.Ser552=
ENST00000341012.11:c.1845C>A	ENSP00000343034.7:p.Ser615=
ENST00000372220.4:c.870C>A	ENSP00000361294.4:p.Ser290=
ENST00000372228.7:c.2073C>A	ENSP00000361302.3:p.Ser691=
ENST00000402686.7:c.2007C>A	ENSP00000385797.3:p.Ser669=
ENST00000404875.6:c.1656C>A	ENSP00000384531.2:p.Ser552=
ENST00000423007.5:c.2007C>A	ENSP00000404119.1:p.Ser669=
ENST00000485278.5:n.2557C>A
NM_001077365.1:c.2007C>A	NP_001070833.1:p.Ser669=
NM_001077366.1:c.1845C>A	NP_001070834.1:p.Ser615=
NM_001136113.1:c.2007C>A	NP_001129585.1:p.Ser669=
NM_001136114.1:c.1656C>A	NP_001129586.1:p.Ser552=
NM_007171.3:c.2073C>A	NP_009102.3:p.Ser691=
XM_005272156.1:c.2073C>A	XP_005272213.1:p.Ser691=
XM_005272158.1:c.1911C>A	XP_005272215.1:p.Ser637=
XM_005272159.1:c.1722C>A	XP_005272216.1:p.Ser574=
XM_005272162.1:c.876C>A	XP_005272219.1:p.Ser292=
XM_006716932.1:c.1722C>A	XP_006716995.1:p.Ser574=
XM_011518140.1:c.1926C>A	XP_011516442.1:p.Ser642=
XM_011518141.1:c.1860C>A	XP_011516443.1:p.Ser620=
XM_011518142.1:c.1764C>A	XP_011516444.1:p.Ser588=
XM_011518143.1:c.1758C>A	XP_011516445.1:p.Ser586=
XM_011518145.1:c.1617C>A	XP_011516447.1:p.Ser539=
XM_011518147.1:c.945C>A	XP_011516449.1:p.Ser315=
XR_929703.1:n.2249C>A
NM_001353193.1:c.2073C>A	NP_001340122.1:p.Ser691=
NM_001353194.1:c.1845C>A	NP_001340123.1:p.Ser615=
NM_001353195.1:c.1656C>A	NP_001340124.1:p.Ser552=
NM_001353196.1:c.1917C>A	NP_001340125.1:p.Ser639=
NM_001353197.1:c.1911C>A	NP_001340126.1:p.Ser637=
NM_001353198.1:c.1911C>A	NP_001340127.1:p.Ser637=
NM_001353199.1:c.1722C>A	NP_001340128.1:p.Ser574=
NM_001353200.1:c.1551C>A	NP_001340129.1:p.Ser517=
NR_148391.1:n.2057C>A
NR_148392.1:n.2275C>A
NR_148393.1:n.2196C>A
NR_148394.1:n.1950C>A
NR_148395.1:n.2348C>A
NR_148396.1:n.1982C>A
NR_148397.1:n.2107C>A
NR_148398.1:n.2062C>A
NR_148399.1:n.2588C>A
NR_148400.1:n.2187C>A
XM_005272162.3:c.876C>A	XP_005272219.1:p.Ser292=
XM_006716932.2:c.1722C>A	XP_006716995.1:p.Ser574=
XM_011518140.2:c.1926C>A	XP_011516442.1:p.Ser642=
XM_011518141.2:c.1860C>A	XP_011516443.1:p.Ser620=
XM_011518142.2:c.1764C>A	XP_011516444.1:p.Ser588=
XM_011518143.2:c.1758C>A	XP_011516445.1:p.Ser586=
XM_011518145.2:c.1617C>A	XP_011516447.1:p.Ser539=
XM_017014205.2:c.876C>A	XP_016869694.1:p.Ser292=
XM_024447380.1:c.876C>A	XP_024303148.1:p.Ser292=
XM_024447381.1:c.1182C>A	XP_024303149.1:p.Ser394=
XM_024447382.1:c.876C>A	XP_024303150.1:p.Ser292=
XR_001746160.2:n.2177C>A
XR_001746162.2:n.2382C>A
XR_001746164.1:n.2099C>A
XR_001746166.2:n.2394C>A
NM_001077365.2:c.2007C>A MANE Select	NP_001070833.1:p.Ser669=
NM_001077366.2:c.1845C>A	NP_001070834.1:p.Ser615=
NM_001136113.2:c.2007C>A	NP_001129585.1:p.Ser669=
NM_001136114.2:c.1656C>A	NP_001129586.1:p.Ser552=
NM_001353193.2:c.2073C>A	NP_001340122.2:p.Ser691=
NM_001353194.2:c.1845C>A	NP_001340123.1:p.Ser615=
NM_001353195.2:c.1656C>A	NP_001340124.1:p.Ser552=
NM_001353196.2:c.1917C>A	NP_001340125.1:p.Ser639=
NM_001353197.2:c.1911C>A	NP_001340126.2:p.Ser637=
NM_001353198.2:c.1911C>A	NP_001340127.2:p.Ser637=
NM_001353199.2:c.1722C>A	NP_001340128.2:p.Ser574=
NM_001353200.2:c.1551C>A	NP_001340129.1:p.Ser517=
NM_001374689.1:c.1995C>A	NP_001361618.1:p.Ser665=
NM_001374690.1:c.1788C>A	NP_001361619.1:p.Ser596=
NM_001374691.1:c.1656C>A	NP_001361620.1:p.Ser552=
NM_001374692.1:c.1656C>A	NP_001361621.1:p.Ser552=
NM_001374693.1:c.1656C>A	NP_001361622.1:p.Ser552=
NM_001374695.1:c.1617C>A	NP_001361624.1:p.Ser539=
NM_007171.4:c.2073C>A	NP_009102.4:p.Ser691=
NR_148391.2:n.2041C>A
NR_148392.2:n.2259C>A
NR_148393.2:n.2180C>A
NR_148394.2:n.1934C>A
NR_148395.2:n.2332C>A
NR_148396.2:n.1966C>A
NR_148397.2:n.2091C>A
NR_148398.2:n.2046C>A
NR_148399.2:n.2572C>A
NR_148400.2:n.2171C>A