Canonical Allele Identifier: CA375314267

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397479G>T (hg19) ; chr9:g.131522092G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522092G>T , CM000671.2:g.131522092G>T	GRCh38
NC_000009.11:g.134397479G>T , CM000671.1:g.134397479G>T	GRCh37
NC_000009.10:g.133387300G>T	NCBI36
NG_008896.1:g.24191G>T
NG_008896.2:g.24191G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1709G>T	ENSP00000343034.7:p.Gly570Val
ENST00000404875.7:n.2411G>T
ENST00000423007.6:c.1928G>T	ENSP00000404119.2:p.Gly643Val
ENST00000677295.2:c.*2215G>T	ENSP00000504346.2:n.*2215G>T
ENST00000678264.2:c.*2054G>T	ENSP00000503157.2:n.*2054G>T
ENST00000682070.1:n.2291-110G>T
ENST00000682813.1:n.2275G>T
ENST00000683392.1:n.4573-110G>T
ENST00000683712.1:n.2276G>T
ENST00000683900.1:n.3771G>T
ENST00000684062.1:n.2537G>T
ENST00000684579.1:n.3717G>T
ENST00000684679.1:n.1098G>T
ENST00000341012.12:c.1709G>T	ENSP00000343034.7:p.Gly570Val
ENST00000372220.5:c.740G>T	ENSP00000361294.5:p.Gly247Val
ENST00000372228.9:c.1937G>T	ENSP00000361302.3:p.Gly646Val
ENST00000402686.8:c.1871G>T MANE Select	ENSP00000385797.4:p.Gly624Val
ENST00000676640.1:c.1871G>T	ENSP00000503281.1:p.Gly624Val
ENST00000676803.1:c.932G>T	ENSP00000503093.1:p.Gly311Val
ENST00000676835.1:c.*1086G>T	ENSP00000502911.1:n.*1086G>T
ENST00000677029.1:c.1415G>T	ENSP00000502936.1:p.Gly472Val
ENST00000677099.1:c.*1581G>T	ENSP00000504553.1:n.*1581G>T
ENST00000677216.1:c.1520G>T	ENSP00000503772.1:p.Gly507Val
ENST00000677221.1:n.896G>T
ENST00000677295.1:c.*1203-110G>T	ENSP00000504346.1:n.*1203-110G>T
ENST00000677444.1:c.1816G>T
ENST00000677586.1:n.1238G>T
ENST00000677626.1:c.1520G>T	ENSP00000503552.1:p.Gly507Val
ENST00000677853.1:c.*879G>T	ENSP00000503488.1:n.*879G>T
ENST00000678202.1:n.1030G>T
ENST00000678264.1:c.*1248G>T	ENSP00000503157.1:n.*1248G>T
ENST00000678303.1:c.1781G>T	ENSP00000503696.1:p.Gly594Val
ENST00000678366.1:c.*2120G>T	ENSP00000504353.1:n.*2120G>T
ENST00000678546.1:c.*1816G>T	ENSP00000503062.1:n.*1816G>T
ENST00000678548.1:c.*2010G>T	ENSP00000503934.1:n.*2010G>T
ENST00000678626.1:n.1707G>T
ENST00000678739.1:c.*2147-110G>T	ENSP00000503806.1:n.*2147-110G>T
ENST00000678833.1:c.*1623G>T	ENSP00000503893.1:n.*1623G>T
ENST00000679023.1:c.1709G>T	ENSP00000503718.1:p.Gly570Val
ENST00000679076.1:c.1490G>T
ENST00000679111.1:c.*627G>T	ENSP00000504257.1:n.*627G>T
ENST00000679189.1:c.1520G>T	ENSP00000503356.1:p.Gly507Val
ENST00000341012.11:c.1709G>T	ENSP00000343034.7:p.Gly570Val
ENST00000372220.4:c.734G>T	ENSP00000361294.4:p.Gly245Val
ENST00000372228.7:c.1937G>T	ENSP00000361302.3:p.Gly646Val
ENST00000402686.7:c.1871G>T	ENSP00000385797.3:p.Gly624Val
ENST00000404875.6:c.1520G>T	ENSP00000384531.2:p.Gly507Val
ENST00000423007.5:c.1871G>T	ENSP00000404119.1:p.Gly624Val
ENST00000485278.5:n.2421G>T
ENST00000494883.1:n.414G>T
NM_001077365.1:c.1871G>T	NP_001070833.1:p.Gly624Val
NM_001077366.1:c.1709G>T	NP_001070834.1:p.Gly570Val
NM_001136113.1:c.1871G>T	NP_001129585.1:p.Gly624Val
NM_001136114.1:c.1520G>T	NP_001129586.1:p.Gly507Val
NM_007171.3:c.1937G>T	NP_009102.3:p.Gly646Val
XM_005272156.1:c.1937G>T	XP_005272213.1:p.Gly646Val
XM_005272158.1:c.1775G>T	XP_005272215.1:p.Gly592Val
XM_005272159.1:c.1586G>T	XP_005272216.1:p.Gly529Val
XM_005272162.1:c.740G>T	XP_005272219.1:p.Gly247Val
XM_006716932.1:c.1586G>T	XP_006716995.1:p.Gly529Val
XM_011518140.1:c.1790G>T	XP_011516442.1:p.Gly597Val
XM_011518141.1:c.1724G>T	XP_011516443.1:p.Gly575Val
XM_011518142.1:c.1628G>T	XP_011516444.1:p.Gly543Val
XM_011518143.1:c.1622G>T	XP_011516445.1:p.Gly541Val
XM_011518145.1:c.1481G>T	XP_011516447.1:p.Gly494Val
XM_011518147.1:c.809G>T	XP_011516449.1:p.Gly270Val
XR_929703.1:n.2113G>T
NM_001353193.1:c.1937G>T	NP_001340122.1:p.Gly646Val
NM_001353194.1:c.1709G>T	NP_001340123.1:p.Gly570Val
NM_001353195.1:c.1520G>T	NP_001340124.1:p.Gly507Val
NM_001353196.1:c.1781G>T	NP_001340125.1:p.Gly594Val
NM_001353197.1:c.1775G>T	NP_001340126.1:p.Gly592Val
NM_001353198.1:c.1775G>T	NP_001340127.1:p.Gly592Val
NM_001353199.1:c.1586G>T	NP_001340128.1:p.Gly529Val
NM_001353200.1:c.1415G>T	NP_001340129.1:p.Gly472Val
NR_148391.1:n.1921G>T
NR_148392.1:n.2139G>T
NR_148393.1:n.2060G>T
NR_148394.1:n.1814G>T
NR_148395.1:n.2212G>T
NR_148396.1:n.1846G>T
NR_148397.1:n.1971G>T
NR_148398.1:n.1926G>T
NR_148399.1:n.2452G>T
NR_148400.1:n.2051G>T
XM_005272162.3:c.740G>T	XP_005272219.1:p.Gly247Val
XM_006716932.2:c.1586G>T	XP_006716995.1:p.Gly529Val
XM_011518140.2:c.1790G>T	XP_011516442.1:p.Gly597Val
XM_011518141.2:c.1724G>T	XP_011516443.1:p.Gly575Val
XM_011518142.2:c.1628G>T	XP_011516444.1:p.Gly543Val
XM_011518143.2:c.1622G>T	XP_011516445.1:p.Gly541Val
XM_011518145.2:c.1481G>T	XP_011516447.1:p.Gly494Val
XM_017014205.2:c.740G>T	XP_016869694.1:p.Gly247Val
XM_024447380.1:c.740G>T	XP_024303148.1:p.Gly247Val
XM_024447381.1:c.1046G>T	XP_024303149.1:p.Gly349Val
XM_024447382.1:c.740G>T	XP_024303150.1:p.Gly247Val
XR_001746160.2:n.2041G>T
XR_001746162.2:n.2246G>T
XR_001746164.1:n.1963G>T
XR_001746166.2:n.2258G>T
NM_001077365.2:c.1871G>T MANE Select	NP_001070833.1:p.Gly624Val
NM_001077366.2:c.1709G>T	NP_001070834.1:p.Gly570Val
NM_001136113.2:c.1871G>T	NP_001129585.1:p.Gly624Val
NM_001136114.2:c.1520G>T	NP_001129586.1:p.Gly507Val
NM_001353193.2:c.1937G>T	NP_001340122.2:p.Gly646Val
NM_001353194.2:c.1709G>T	NP_001340123.1:p.Gly570Val
NM_001353195.2:c.1520G>T	NP_001340124.1:p.Gly507Val
NM_001353196.2:c.1781G>T	NP_001340125.1:p.Gly594Val
NM_001353197.2:c.1775G>T	NP_001340126.2:p.Gly592Val
NM_001353198.2:c.1775G>T	NP_001340127.2:p.Gly592Val
NM_001353199.2:c.1586G>T	NP_001340128.2:p.Gly529Val
NM_001353200.2:c.1415G>T	NP_001340129.1:p.Gly472Val
NM_001374689.1:c.1859G>T	NP_001361618.1:p.Gly620Val
NM_001374690.1:c.1652G>T	NP_001361619.1:p.Gly551Val
NM_001374691.1:c.1520G>T	NP_001361620.1:p.Gly507Val
NM_001374692.1:c.1520G>T	NP_001361621.1:p.Gly507Val
NM_001374693.1:c.1520G>T	NP_001361622.1:p.Gly507Val
NM_001374695.1:c.1481G>T	NP_001361624.1:p.Gly494Val
NM_007171.4:c.1937G>T	NP_009102.4:p.Gly646Val
NR_148391.2:n.1905G>T
NR_148392.2:n.2123G>T
NR_148393.2:n.2044G>T
NR_148394.2:n.1798G>T
NR_148395.2:n.2196G>T
NR_148396.2:n.1830G>T
NR_148397.2:n.1955G>T
NR_148398.2:n.1910G>T
NR_148399.2:n.2436G>T
NR_148400.2:n.2035G>T