Canonical Allele Identifier: CA467424041

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397489G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522102G>T , CM000671.2:g.131522102G>T	GRCh38
NC_000009.11:g.134397489G>T , CM000671.1:g.134397489G>T	GRCh37
NC_000009.10:g.133387310G>T	NCBI36
NG_008896.1:g.24201G>T
NG_008896.2:g.24201G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1719G>T	ENSP00000343034.7:p.Val573=
ENST00000404875.7:n.2421G>T
ENST00000423007.6:c.1938G>T	ENSP00000404119.2:p.Val646=
ENST00000677295.2:c.*2225G>T	ENSP00000504346.2:n.*2225G>T
ENST00000678264.2:c.*2064G>T	ENSP00000503157.2:n.*2064G>T
ENST00000682070.1:n.2291-100G>T
ENST00000682813.1:n.2285G>T
ENST00000683392.1:n.4573-100G>T
ENST00000683712.1:n.2286G>T
ENST00000683900.1:n.3781G>T
ENST00000684062.1:n.2547G>T
ENST00000684579.1:n.3727G>T
ENST00000684679.1:n.1108G>T
ENST00000341012.12:c.1719G>T	ENSP00000343034.7:p.Val573=
ENST00000372220.5:c.750G>T	ENSP00000361294.5:p.Val250=
ENST00000372228.9:c.1947G>T	ENSP00000361302.3:p.Val649=
ENST00000402686.8:c.1881G>T MANE Select	ENSP00000385797.4:p.Val627=
ENST00000676640.1:c.1881G>T	ENSP00000503281.1:p.Val627=
ENST00000676803.1:c.942G>T	ENSP00000503093.1:p.Val314=
ENST00000676835.1:c.*1096G>T	ENSP00000502911.1:n.*1096G>T
ENST00000677029.1:c.1425G>T	ENSP00000502936.1:p.Val475=
ENST00000677099.1:c.*1591G>T	ENSP00000504553.1:n.*1591G>T
ENST00000677216.1:c.1530G>T	ENSP00000503772.1:p.Val510=
ENST00000677221.1:n.906G>T
ENST00000677295.1:c.*1203-100G>T	ENSP00000504346.1:n.*1203-100G>T
ENST00000677444.1:c.1826G>T
ENST00000677586.1:n.1248G>T
ENST00000677626.1:c.1530G>T	ENSP00000503552.1:p.Val510=
ENST00000677853.1:c.*889G>T	ENSP00000503488.1:n.*889G>T
ENST00000678202.1:n.1040G>T
ENST00000678264.1:c.*1258G>T	ENSP00000503157.1:n.*1258G>T
ENST00000678303.1:c.1791G>T	ENSP00000503696.1:p.Val597=
ENST00000678366.1:c.*2130G>T	ENSP00000504353.1:n.*2130G>T
ENST00000678546.1:c.*1826G>T	ENSP00000503062.1:n.*1826G>T
ENST00000678548.1:c.*2020G>T	ENSP00000503934.1:n.*2020G>T
ENST00000678626.1:n.1717G>T
ENST00000678739.1:c.*2147-100G>T	ENSP00000503806.1:n.*2147-100G>T
ENST00000678833.1:c.*1633G>T	ENSP00000503893.1:n.*1633G>T
ENST00000679023.1:c.1719G>T	ENSP00000503718.1:p.Val573=
ENST00000679076.1:c.1500G>T
ENST00000679111.1:c.*637G>T	ENSP00000504257.1:n.*637G>T
ENST00000679189.1:c.1530G>T	ENSP00000503356.1:p.Val510=
ENST00000341012.11:c.1719G>T	ENSP00000343034.7:p.Val573=
ENST00000372220.4:c.744G>T	ENSP00000361294.4:p.Val248=
ENST00000372228.7:c.1947G>T	ENSP00000361302.3:p.Val649=
ENST00000402686.7:c.1881G>T	ENSP00000385797.3:p.Val627=
ENST00000404875.6:c.1530G>T	ENSP00000384531.2:p.Val510=
ENST00000423007.5:c.1881G>T	ENSP00000404119.1:p.Val627=
ENST00000485278.5:n.2431G>T
ENST00000494883.1:n.424G>T
NM_001077365.1:c.1881G>T	NP_001070833.1:p.Val627=
NM_001077366.1:c.1719G>T	NP_001070834.1:p.Val573=
NM_001136113.1:c.1881G>T	NP_001129585.1:p.Val627=
NM_001136114.1:c.1530G>T	NP_001129586.1:p.Val510=
NM_007171.3:c.1947G>T	NP_009102.3:p.Val649=
XM_005272156.1:c.1947G>T	XP_005272213.1:p.Val649=
XM_005272158.1:c.1785G>T	XP_005272215.1:p.Val595=
XM_005272159.1:c.1596G>T	XP_005272216.1:p.Val532=
XM_005272162.1:c.750G>T	XP_005272219.1:p.Val250=
XM_006716932.1:c.1596G>T	XP_006716995.1:p.Val532=
XM_011518140.1:c.1800G>T	XP_011516442.1:p.Val600=
XM_011518141.1:c.1734G>T	XP_011516443.1:p.Val578=
XM_011518142.1:c.1638G>T	XP_011516444.1:p.Val546=
XM_011518143.1:c.1632G>T	XP_011516445.1:p.Val544=
XM_011518145.1:c.1491G>T	XP_011516447.1:p.Val497=
XM_011518147.1:c.819G>T	XP_011516449.1:p.Val273=
XR_929703.1:n.2123G>T
NM_001353193.1:c.1947G>T	NP_001340122.1:p.Val649=
NM_001353194.1:c.1719G>T	NP_001340123.1:p.Val573=
NM_001353195.1:c.1530G>T	NP_001340124.1:p.Val510=
NM_001353196.1:c.1791G>T	NP_001340125.1:p.Val597=
NM_001353197.1:c.1785G>T	NP_001340126.1:p.Val595=
NM_001353198.1:c.1785G>T	NP_001340127.1:p.Val595=
NM_001353199.1:c.1596G>T	NP_001340128.1:p.Val532=
NM_001353200.1:c.1425G>T	NP_001340129.1:p.Val475=
NR_148391.1:n.1931G>T
NR_148392.1:n.2149G>T
NR_148393.1:n.2070G>T
NR_148394.1:n.1824G>T
NR_148395.1:n.2222G>T
NR_148396.1:n.1856G>T
NR_148397.1:n.1981G>T
NR_148398.1:n.1936G>T
NR_148399.1:n.2462G>T
NR_148400.1:n.2061G>T
XM_005272162.3:c.750G>T	XP_005272219.1:p.Val250=
XM_006716932.2:c.1596G>T	XP_006716995.1:p.Val532=
XM_011518140.2:c.1800G>T	XP_011516442.1:p.Val600=
XM_011518141.2:c.1734G>T	XP_011516443.1:p.Val578=
XM_011518142.2:c.1638G>T	XP_011516444.1:p.Val546=
XM_011518143.2:c.1632G>T	XP_011516445.1:p.Val544=
XM_011518145.2:c.1491G>T	XP_011516447.1:p.Val497=
XM_017014205.2:c.750G>T	XP_016869694.1:p.Val250=
XM_024447380.1:c.750G>T	XP_024303148.1:p.Val250=
XM_024447381.1:c.1056G>T	XP_024303149.1:p.Val352=
XM_024447382.1:c.750G>T	XP_024303150.1:p.Val250=
XR_001746160.2:n.2051G>T
XR_001746162.2:n.2256G>T
XR_001746164.1:n.1973G>T
XR_001746166.2:n.2268G>T
NM_001077365.2:c.1881G>T MANE Select	NP_001070833.1:p.Val627=
NM_001077366.2:c.1719G>T	NP_001070834.1:p.Val573=
NM_001136113.2:c.1881G>T	NP_001129585.1:p.Val627=
NM_001136114.2:c.1530G>T	NP_001129586.1:p.Val510=
NM_001353193.2:c.1947G>T	NP_001340122.2:p.Val649=
NM_001353194.2:c.1719G>T	NP_001340123.1:p.Val573=
NM_001353195.2:c.1530G>T	NP_001340124.1:p.Val510=
NM_001353196.2:c.1791G>T	NP_001340125.1:p.Val597=
NM_001353197.2:c.1785G>T	NP_001340126.2:p.Val595=
NM_001353198.2:c.1785G>T	NP_001340127.2:p.Val595=
NM_001353199.2:c.1596G>T	NP_001340128.2:p.Val532=
NM_001353200.2:c.1425G>T	NP_001340129.1:p.Val475=
NM_001374689.1:c.1869G>T	NP_001361618.1:p.Val623=
NM_001374690.1:c.1662G>T	NP_001361619.1:p.Val554=
NM_001374691.1:c.1530G>T	NP_001361620.1:p.Val510=
NM_001374692.1:c.1530G>T	NP_001361621.1:p.Val510=
NM_001374693.1:c.1530G>T	NP_001361622.1:p.Val510=
NM_001374695.1:c.1491G>T	NP_001361624.1:p.Val497=
NM_007171.4:c.1947G>T	NP_009102.4:p.Val649=
NR_148391.2:n.1915G>T
NR_148392.2:n.2133G>T
NR_148393.2:n.2054G>T
NR_148394.2:n.1808G>T
NR_148395.2:n.2206G>T
NR_148396.2:n.1840G>T
NR_148397.2:n.1965G>T
NR_148398.2:n.1920G>T
NR_148399.2:n.2446G>T
NR_148400.2:n.2045G>T