Canonical Allele Identifier: CA467424058

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397522A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522135A>C , CM000671.2:g.131522135A>C	GRCh38
NC_000009.11:g.134397522A>C , CM000671.1:g.134397522A>C	GRCh37
NC_000009.10:g.133387343A>C	NCBI36
NG_008896.1:g.24234A>C
NG_008896.2:g.24234A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1752A>C	ENSP00000343034.7:p.Thr584=
ENST00000404875.7:n.2454A>C
ENST00000423007.6:c.1971A>C	ENSP00000404119.2:p.Thr657=
ENST00000677295.2:c.*2258A>C	ENSP00000504346.2:n.*2258A>C
ENST00000678264.2:c.*2097A>C	ENSP00000503157.2:n.*2097A>C
ENST00000682070.1:n.2291-67A>C
ENST00000682813.1:n.2318A>C
ENST00000683392.1:n.4573-67A>C
ENST00000683712.1:n.2319A>C
ENST00000683900.1:n.3814A>C
ENST00000684062.1:n.2580A>C
ENST00000684579.1:n.3760A>C
ENST00000684679.1:n.1141A>C
ENST00000341012.12:c.1752A>C	ENSP00000343034.7:p.Thr584=
ENST00000372220.5:c.783A>C	ENSP00000361294.5:p.Thr261=
ENST00000372228.9:c.1980A>C	ENSP00000361302.3:p.Thr660=
ENST00000402686.8:c.1914A>C MANE Select	ENSP00000385797.4:p.Thr638=
ENST00000676640.1:c.1914A>C	ENSP00000503281.1:p.Thr638=
ENST00000676803.1:c.975A>C	ENSP00000503093.1:p.Thr325=
ENST00000676835.1:c.*1129A>C	ENSP00000502911.1:n.*1129A>C
ENST00000677029.1:c.1458A>C	ENSP00000502936.1:p.Thr486=
ENST00000677099.1:c.*1624A>C	ENSP00000504553.1:n.*1624A>C
ENST00000677216.1:c.1563A>C	ENSP00000503772.1:p.Thr521=
ENST00000677221.1:n.939A>C
ENST00000677295.1:c.*1203-67A>C	ENSP00000504346.1:n.*1203-67A>C
ENST00000677444.1:c.1859A>C
ENST00000677586.1:n.1281A>C
ENST00000677626.1:c.1563A>C	ENSP00000503552.1:p.Thr521=
ENST00000677853.1:c.*922A>C	ENSP00000503488.1:n.*922A>C
ENST00000678202.1:n.1073A>C
ENST00000678264.1:c.*1291A>C	ENSP00000503157.1:n.*1291A>C
ENST00000678303.1:c.1824A>C	ENSP00000503696.1:p.Thr608=
ENST00000678366.1:c.*2163A>C	ENSP00000504353.1:n.*2163A>C
ENST00000678546.1:c.*1859A>C	ENSP00000503062.1:n.*1859A>C
ENST00000678548.1:c.*2053A>C	ENSP00000503934.1:n.*2053A>C
ENST00000678626.1:n.1750A>C
ENST00000678739.1:c.*2147-67A>C	ENSP00000503806.1:n.*2147-67A>C
ENST00000678833.1:c.*1666A>C	ENSP00000503893.1:n.*1666A>C
ENST00000679023.1:c.1752A>C	ENSP00000503718.1:p.Thr584=
ENST00000679076.1:c.1533A>C
ENST00000679111.1:c.*670A>C	ENSP00000504257.1:n.*670A>C
ENST00000679189.1:c.1563A>C	ENSP00000503356.1:p.Thr521=
ENST00000341012.11:c.1752A>C	ENSP00000343034.7:p.Thr584=
ENST00000372220.4:c.777A>C	ENSP00000361294.4:p.Thr259=
ENST00000372228.7:c.1980A>C	ENSP00000361302.3:p.Thr660=
ENST00000402686.7:c.1914A>C	ENSP00000385797.3:p.Thr638=
ENST00000404875.6:c.1563A>C	ENSP00000384531.2:p.Thr521=
ENST00000423007.5:c.1914A>C	ENSP00000404119.1:p.Thr638=
ENST00000485278.5:n.2464A>C
ENST00000494883.1:n.457A>C
NM_001077365.1:c.1914A>C	NP_001070833.1:p.Thr638=
NM_001077366.1:c.1752A>C	NP_001070834.1:p.Thr584=
NM_001136113.1:c.1914A>C	NP_001129585.1:p.Thr638=
NM_001136114.1:c.1563A>C	NP_001129586.1:p.Thr521=
NM_007171.3:c.1980A>C	NP_009102.3:p.Thr660=
XM_005272156.1:c.1980A>C	XP_005272213.1:p.Thr660=
XM_005272158.1:c.1818A>C	XP_005272215.1:p.Thr606=
XM_005272159.1:c.1629A>C	XP_005272216.1:p.Thr543=
XM_005272162.1:c.783A>C	XP_005272219.1:p.Thr261=
XM_006716932.1:c.1629A>C	XP_006716995.1:p.Thr543=
XM_011518140.1:c.1833A>C	XP_011516442.1:p.Thr611=
XM_011518141.1:c.1767A>C	XP_011516443.1:p.Thr589=
XM_011518142.1:c.1671A>C	XP_011516444.1:p.Thr557=
XM_011518143.1:c.1665A>C	XP_011516445.1:p.Thr555=
XM_011518145.1:c.1524A>C	XP_011516447.1:p.Thr508=
XM_011518147.1:c.852A>C	XP_011516449.1:p.Thr284=
XR_929703.1:n.2156A>C
NM_001353193.1:c.1980A>C	NP_001340122.1:p.Thr660=
NM_001353194.1:c.1752A>C	NP_001340123.1:p.Thr584=
NM_001353195.1:c.1563A>C	NP_001340124.1:p.Thr521=
NM_001353196.1:c.1824A>C	NP_001340125.1:p.Thr608=
NM_001353197.1:c.1818A>C	NP_001340126.1:p.Thr606=
NM_001353198.1:c.1818A>C	NP_001340127.1:p.Thr606=
NM_001353199.1:c.1629A>C	NP_001340128.1:p.Thr543=
NM_001353200.1:c.1458A>C	NP_001340129.1:p.Thr486=
NR_148391.1:n.1964A>C
NR_148392.1:n.2182A>C
NR_148393.1:n.2103A>C
NR_148394.1:n.1857A>C
NR_148395.1:n.2255A>C
NR_148396.1:n.1889A>C
NR_148397.1:n.2014A>C
NR_148398.1:n.1969A>C
NR_148399.1:n.2495A>C
NR_148400.1:n.2094A>C
XM_005272162.3:c.783A>C	XP_005272219.1:p.Thr261=
XM_006716932.2:c.1629A>C	XP_006716995.1:p.Thr543=
XM_011518140.2:c.1833A>C	XP_011516442.1:p.Thr611=
XM_011518141.2:c.1767A>C	XP_011516443.1:p.Thr589=
XM_011518142.2:c.1671A>C	XP_011516444.1:p.Thr557=
XM_011518143.2:c.1665A>C	XP_011516445.1:p.Thr555=
XM_011518145.2:c.1524A>C	XP_011516447.1:p.Thr508=
XM_017014205.2:c.783A>C	XP_016869694.1:p.Thr261=
XM_024447380.1:c.783A>C	XP_024303148.1:p.Thr261=
XM_024447381.1:c.1089A>C	XP_024303149.1:p.Thr363=
XM_024447382.1:c.783A>C	XP_024303150.1:p.Thr261=
XR_001746160.2:n.2084A>C
XR_001746162.2:n.2289A>C
XR_001746164.1:n.2006A>C
XR_001746166.2:n.2301A>C
NM_001077365.2:c.1914A>C MANE Select	NP_001070833.1:p.Thr638=
NM_001077366.2:c.1752A>C	NP_001070834.1:p.Thr584=
NM_001136113.2:c.1914A>C	NP_001129585.1:p.Thr638=
NM_001136114.2:c.1563A>C	NP_001129586.1:p.Thr521=
NM_001353193.2:c.1980A>C	NP_001340122.2:p.Thr660=
NM_001353194.2:c.1752A>C	NP_001340123.1:p.Thr584=
NM_001353195.2:c.1563A>C	NP_001340124.1:p.Thr521=
NM_001353196.2:c.1824A>C	NP_001340125.1:p.Thr608=
NM_001353197.2:c.1818A>C	NP_001340126.2:p.Thr606=
NM_001353198.2:c.1818A>C	NP_001340127.2:p.Thr606=
NM_001353199.2:c.1629A>C	NP_001340128.2:p.Thr543=
NM_001353200.2:c.1458A>C	NP_001340129.1:p.Thr486=
NM_001374689.1:c.1902A>C	NP_001361618.1:p.Thr634=
NM_001374690.1:c.1695A>C	NP_001361619.1:p.Thr565=
NM_001374691.1:c.1563A>C	NP_001361620.1:p.Thr521=
NM_001374692.1:c.1563A>C	NP_001361621.1:p.Thr521=
NM_001374693.1:c.1563A>C	NP_001361622.1:p.Thr521=
NM_001374695.1:c.1524A>C	NP_001361624.1:p.Thr508=
NM_007171.4:c.1980A>C	NP_009102.4:p.Thr660=
NR_148391.2:n.1948A>C
NR_148392.2:n.2166A>C
NR_148393.2:n.2087A>C
NR_148394.2:n.1841A>C
NR_148395.2:n.2239A>C
NR_148396.2:n.1873A>C
NR_148397.2:n.1998A>C
NR_148398.2:n.1953A>C
NR_148399.2:n.2479A>C
NR_148400.2:n.2078A>C