Canonical Allele Identifier: CA375315198

Gene: POMT1

Linked Data

• gnomAD v4: 9-131523014-C-A
• MyVariant Identifiers: chr9:g.134398401C>A (hg19) ; chr9:g.131523014C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523014C>A , CM000671.2:g.131523014C>A	GRCh38
NC_000009.11:g.134398401C>A , CM000671.1:g.134398401C>A	GRCh37
NC_000009.10:g.133388222C>A	NCBI36
NG_008896.1:g.25113C>A
NG_008896.2:g.25113C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1924C>A	ENSP00000343034.7:p.Pro642Thr
ENST00000404875.7:n.2626C>A
ENST00000423007.6:c.2143C>A	ENSP00000404119.2:p.Pro715Thr
ENST00000677295.2:c.*2430C>A	ENSP00000504346.2:n.*2430C>A
ENST00000678264.2:c.*2269C>A	ENSP00000503157.2:n.*2269C>A
ENST00000682070.1:n.2396C>A
ENST00000682639.1:c.83C>A
ENST00000682813.1:n.2483C>A
ENST00000683231.1:c.83C>A
ENST00000683392.1:n.4678C>A
ENST00000683712.1:n.2491C>A
ENST00000683900.1:n.3986C>A
ENST00000684062.1:n.2752C>A
ENST00000684399.1:c.83C>A
ENST00000684579.1:n.3932C>A
ENST00000341012.12:c.1924C>A	ENSP00000343034.7:p.Pro642Thr
ENST00000372220.5:c.955C>A	ENSP00000361294.5:p.Pro319Thr
ENST00000372228.9:c.2152C>A	ENSP00000361302.3:p.Pro718Thr
ENST00000402686.8:c.2086C>A MANE Select	ENSP00000385797.4:p.Pro696Thr
ENST00000676640.1:c.2086C>A	ENSP00000503281.1:p.Pro696Thr
ENST00000676803.1:c.1147C>A	ENSP00000503093.1:p.Pro383Thr
ENST00000676835.1:c.*1301C>A	ENSP00000502911.1:n.*1301C>A
ENST00000677029.1:c.1630C>A	ENSP00000502936.1:p.Pro544Thr
ENST00000677099.1:c.*1796C>A	ENSP00000504553.1:n.*1796C>A
ENST00000677216.1:c.1735C>A	ENSP00000503772.1:p.Pro579Thr
ENST00000677221.1:n.1111C>A
ENST00000677295.1:c.*1308C>A	ENSP00000504346.1:n.*1308C>A
ENST00000677444.1:c.2031C>A
ENST00000677586.1:n.1453C>A
ENST00000677626.1:c.1735C>A	ENSP00000503552.1:p.Pro579Thr
ENST00000677853.1:c.*1094C>A	ENSP00000503488.1:n.*1094C>A
ENST00000678264.1:c.*1463C>A	ENSP00000503157.1:n.*1463C>A
ENST00000678303.1:c.1996C>A	ENSP00000503696.1:p.Pro666Thr
ENST00000678366.1:c.*2335C>A	ENSP00000504353.1:n.*2335C>A
ENST00000678546.1:c.*2031C>A	ENSP00000503062.1:n.*2031C>A
ENST00000678548.1:c.*2225C>A	ENSP00000503934.1:n.*2225C>A
ENST00000678626.1:n.1922C>A
ENST00000678739.1:c.*2252C>A	ENSP00000503806.1:n.*2252C>A
ENST00000678833.1:c.*1838C>A	ENSP00000503893.1:n.*1838C>A
ENST00000679023.1:c.1924C>A	ENSP00000503718.1:p.Pro642Thr
ENST00000679076.1:c.1705C>A
ENST00000679111.1:c.*842C>A	ENSP00000504257.1:n.*842C>A
ENST00000679189.1:c.1735C>A	ENSP00000503356.1:p.Pro579Thr
ENST00000341012.11:c.1924C>A	ENSP00000343034.7:p.Pro642Thr
ENST00000372220.4:c.949C>A	ENSP00000361294.4:p.Pro317Thr
ENST00000372228.7:c.2152C>A	ENSP00000361302.3:p.Pro718Thr
ENST00000402686.7:c.2086C>A	ENSP00000385797.3:p.Pro696Thr
ENST00000404875.6:c.1735C>A	ENSP00000384531.2:p.Pro579Thr
ENST00000423007.5:c.2086C>A	ENSP00000404119.1:p.Pro696Thr
ENST00000485278.5:n.2636C>A
NM_001077365.1:c.2086C>A	NP_001070833.1:p.Pro696Thr
NM_001077366.1:c.1924C>A	NP_001070834.1:p.Pro642Thr
NM_001136113.1:c.2086C>A	NP_001129585.1:p.Pro696Thr
NM_001136114.1:c.1735C>A	NP_001129586.1:p.Pro579Thr
NM_007171.3:c.2152C>A	NP_009102.3:p.Pro718Thr
XM_005272156.1:c.2152C>A	XP_005272213.1:p.Pro718Thr
XM_005272158.1:c.1990C>A	XP_005272215.1:p.Pro664Thr
XM_005272159.1:c.1801C>A	XP_005272216.1:p.Pro601Thr
XM_005272162.1:c.955C>A	XP_005272219.1:p.Pro319Thr
XM_006716932.1:c.1801C>A	XP_006716995.1:p.Pro601Thr
XM_011518140.1:c.2005C>A	XP_011516442.1:p.Pro669Thr
XM_011518141.1:c.1939C>A	XP_011516443.1:p.Pro647Thr
XM_011518142.1:c.1843C>A	XP_011516444.1:p.Pro615Thr
XM_011518143.1:c.1837C>A	XP_011516445.1:p.Pro613Thr
XM_011518145.1:c.1696C>A	XP_011516447.1:p.Pro566Thr
XM_011518147.1:c.1024C>A	XP_011516449.1:p.Pro342Thr
XR_929703.1:n.2328C>A
NM_001353193.1:c.2152C>A	NP_001340122.1:p.Pro718Thr
NM_001353194.1:c.1924C>A	NP_001340123.1:p.Pro642Thr
NM_001353195.1:c.1735C>A	NP_001340124.1:p.Pro579Thr
NM_001353196.1:c.1996C>A	NP_001340125.1:p.Pro666Thr
NM_001353197.1:c.1990C>A	NP_001340126.1:p.Pro664Thr
NM_001353198.1:c.1990C>A	NP_001340127.1:p.Pro664Thr
NM_001353199.1:c.1801C>A	NP_001340128.1:p.Pro601Thr
NM_001353200.1:c.1630C>A	NP_001340129.1:p.Pro544Thr
NR_148391.1:n.2136C>A
NR_148392.1:n.2354C>A
NR_148393.1:n.2275C>A
NR_148394.1:n.2029C>A
NR_148395.1:n.2427C>A
NR_148396.1:n.2061C>A
NR_148397.1:n.2186C>A
NR_148398.1:n.2141C>A
NR_148399.1:n.2667C>A
NR_148400.1:n.2266C>A
XM_005272162.3:c.955C>A	XP_005272219.1:p.Pro319Thr
XM_006716932.2:c.1801C>A	XP_006716995.1:p.Pro601Thr
XM_011518140.2:c.2005C>A	XP_011516442.1:p.Pro669Thr
XM_011518141.2:c.1939C>A	XP_011516443.1:p.Pro647Thr
XM_011518142.2:c.1843C>A	XP_011516444.1:p.Pro615Thr
XM_011518143.2:c.1837C>A	XP_011516445.1:p.Pro613Thr
XM_011518145.2:c.1696C>A	XP_011516447.1:p.Pro566Thr
XM_017014205.2:c.955C>A	XP_016869694.1:p.Pro319Thr
XM_024447380.1:c.955C>A	XP_024303148.1:p.Pro319Thr
XM_024447381.1:c.1261C>A	XP_024303149.1:p.Pro421Thr
XM_024447382.1:c.955C>A	XP_024303150.1:p.Pro319Thr
XR_001746160.2:n.2256C>A
XR_001746162.2:n.2461C>A
XR_001746164.1:n.2178C>A
XR_001746166.2:n.2473C>A
NM_001077365.2:c.2086C>A MANE Select	NP_001070833.1:p.Pro696Thr
NM_001077366.2:c.1924C>A	NP_001070834.1:p.Pro642Thr
NM_001136113.2:c.2086C>A	NP_001129585.1:p.Pro696Thr
NM_001136114.2:c.1735C>A	NP_001129586.1:p.Pro579Thr
NM_001353193.2:c.2152C>A	NP_001340122.2:p.Pro718Thr
NM_001353194.2:c.1924C>A	NP_001340123.1:p.Pro642Thr
NM_001353195.2:c.1735C>A	NP_001340124.1:p.Pro579Thr
NM_001353196.2:c.1996C>A	NP_001340125.1:p.Pro666Thr
NM_001353197.2:c.1990C>A	NP_001340126.2:p.Pro664Thr
NM_001353198.2:c.1990C>A	NP_001340127.2:p.Pro664Thr
NM_001353199.2:c.1801C>A	NP_001340128.2:p.Pro601Thr
NM_001353200.2:c.1630C>A	NP_001340129.1:p.Pro544Thr
NM_001374689.1:c.2074C>A	NP_001361618.1:p.Pro692Thr
NM_001374690.1:c.1867C>A	NP_001361619.1:p.Pro623Thr
NM_001374691.1:c.1735C>A	NP_001361620.1:p.Pro579Thr
NM_001374692.1:c.1735C>A	NP_001361621.1:p.Pro579Thr
NM_001374693.1:c.1735C>A	NP_001361622.1:p.Pro579Thr
NM_001374695.1:c.1696C>A	NP_001361624.1:p.Pro566Thr
NM_007171.4:c.2152C>A	NP_009102.4:p.Pro718Thr
NR_148391.2:n.2120C>A
NR_148392.2:n.2338C>A
NR_148393.2:n.2259C>A
NR_148394.2:n.2013C>A
NR_148395.2:n.2411C>A
NR_148396.2:n.2045C>A
NR_148397.2:n.2170C>A
NR_148398.2:n.2125C>A
NR_148399.2:n.2651C>A
NR_148400.2:n.2250C>A