Canonical Allele Identifier: CA467424096

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397570G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522183G>A , CM000671.2:g.131522183G>A	GRCh38
NC_000009.11:g.134397570G>A , CM000671.1:g.134397570G>A	GRCh37
NC_000009.10:g.133387391G>A	NCBI36
NG_008896.1:g.24282G>A
NG_008896.2:g.24282G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1800G>A	ENSP00000343034.7:p.Leu600=
ENST00000404875.7:n.2502G>A
ENST00000423007.6:c.2019G>A	ENSP00000404119.2:p.Leu673=
ENST00000677295.2:c.*2306G>A	ENSP00000504346.2:n.*2306G>A
ENST00000678264.2:c.*2145G>A	ENSP00000503157.2:n.*2145G>A
ENST00000682070.1:n.2291-19G>A
ENST00000682813.1:n.2366G>A
ENST00000683392.1:n.4573-19G>A
ENST00000683712.1:n.2367G>A
ENST00000683900.1:n.3862G>A
ENST00000684062.1:n.2628G>A
ENST00000684579.1:n.3808G>A
ENST00000684679.1:n.1189G>A
ENST00000341012.12:c.1800G>A	ENSP00000343034.7:p.Leu600=
ENST00000372220.5:c.831G>A	ENSP00000361294.5:p.Leu277=
ENST00000372228.9:c.2028G>A	ENSP00000361302.3:p.Leu676=
ENST00000402686.8:c.1962G>A MANE Select	ENSP00000385797.4:p.Leu654=
ENST00000676640.1:c.1962G>A	ENSP00000503281.1:p.Leu654=
ENST00000676803.1:c.1023G>A	ENSP00000503093.1:p.Leu341=
ENST00000676835.1:c.*1177G>A	ENSP00000502911.1:n.*1177G>A
ENST00000677029.1:c.1506G>A	ENSP00000502936.1:p.Leu502=
ENST00000677099.1:c.*1672G>A	ENSP00000504553.1:n.*1672G>A
ENST00000677216.1:c.1611G>A	ENSP00000503772.1:p.Leu537=
ENST00000677221.1:n.987G>A
ENST00000677295.1:c.*1203-19G>A	ENSP00000504346.1:n.*1203-19G>A
ENST00000677444.1:c.1907G>A
ENST00000677586.1:n.1329G>A
ENST00000677626.1:c.1611G>A	ENSP00000503552.1:p.Leu537=
ENST00000677853.1:c.*970G>A	ENSP00000503488.1:n.*970G>A
ENST00000678202.1:n.1121G>A
ENST00000678264.1:c.*1339G>A	ENSP00000503157.1:n.*1339G>A
ENST00000678303.1:c.1872G>A	ENSP00000503696.1:p.Leu624=
ENST00000678366.1:c.*2211G>A	ENSP00000504353.1:n.*2211G>A
ENST00000678546.1:c.*1907G>A	ENSP00000503062.1:n.*1907G>A
ENST00000678548.1:c.*2101G>A	ENSP00000503934.1:n.*2101G>A
ENST00000678626.1:n.1798G>A
ENST00000678739.1:c.*2147-19G>A	ENSP00000503806.1:n.*2147-19G>A
ENST00000678833.1:c.*1714G>A	ENSP00000503893.1:n.*1714G>A
ENST00000679023.1:c.1800G>A	ENSP00000503718.1:p.Leu600=
ENST00000679076.1:c.1581G>A
ENST00000679111.1:c.*718G>A	ENSP00000504257.1:n.*718G>A
ENST00000679189.1:c.1611G>A	ENSP00000503356.1:p.Leu537=
ENST00000341012.11:c.1800G>A	ENSP00000343034.7:p.Leu600=
ENST00000372220.4:c.825G>A	ENSP00000361294.4:p.Leu275=
ENST00000372228.7:c.2028G>A	ENSP00000361302.3:p.Leu676=
ENST00000402686.7:c.1962G>A	ENSP00000385797.3:p.Leu654=
ENST00000404875.6:c.1611G>A	ENSP00000384531.2:p.Leu537=
ENST00000423007.5:c.1962G>A	ENSP00000404119.1:p.Leu654=
ENST00000485278.5:n.2512G>A
ENST00000494883.1:n.505G>A
NM_001077365.1:c.1962G>A	NP_001070833.1:p.Leu654=
NM_001077366.1:c.1800G>A	NP_001070834.1:p.Leu600=
NM_001136113.1:c.1962G>A	NP_001129585.1:p.Leu654=
NM_001136114.1:c.1611G>A	NP_001129586.1:p.Leu537=
NM_007171.3:c.2028G>A	NP_009102.3:p.Leu676=
XM_005272156.1:c.2028G>A	XP_005272213.1:p.Leu676=
XM_005272158.1:c.1866G>A	XP_005272215.1:p.Leu622=
XM_005272159.1:c.1677G>A	XP_005272216.1:p.Leu559=
XM_005272162.1:c.831G>A	XP_005272219.1:p.Leu277=
XM_006716932.1:c.1677G>A	XP_006716995.1:p.Leu559=
XM_011518140.1:c.1881G>A	XP_011516442.1:p.Leu627=
XM_011518141.1:c.1815G>A	XP_011516443.1:p.Leu605=
XM_011518142.1:c.1719G>A	XP_011516444.1:p.Leu573=
XM_011518143.1:c.1713G>A	XP_011516445.1:p.Leu571=
XM_011518145.1:c.1572G>A	XP_011516447.1:p.Leu524=
XM_011518147.1:c.900G>A	XP_011516449.1:p.Leu300=
XR_929703.1:n.2204G>A
NM_001353193.1:c.2028G>A	NP_001340122.1:p.Leu676=
NM_001353194.1:c.1800G>A	NP_001340123.1:p.Leu600=
NM_001353195.1:c.1611G>A	NP_001340124.1:p.Leu537=
NM_001353196.1:c.1872G>A	NP_001340125.1:p.Leu624=
NM_001353197.1:c.1866G>A	NP_001340126.1:p.Leu622=
NM_001353198.1:c.1866G>A	NP_001340127.1:p.Leu622=
NM_001353199.1:c.1677G>A	NP_001340128.1:p.Leu559=
NM_001353200.1:c.1506G>A	NP_001340129.1:p.Leu502=
NR_148391.1:n.2012G>A
NR_148392.1:n.2230G>A
NR_148393.1:n.2151G>A
NR_148394.1:n.1905G>A
NR_148395.1:n.2303G>A
NR_148396.1:n.1937G>A
NR_148397.1:n.2062G>A
NR_148398.1:n.2017G>A
NR_148399.1:n.2543G>A
NR_148400.1:n.2142G>A
XM_005272162.3:c.831G>A	XP_005272219.1:p.Leu277=
XM_006716932.2:c.1677G>A	XP_006716995.1:p.Leu559=
XM_011518140.2:c.1881G>A	XP_011516442.1:p.Leu627=
XM_011518141.2:c.1815G>A	XP_011516443.1:p.Leu605=
XM_011518142.2:c.1719G>A	XP_011516444.1:p.Leu573=
XM_011518143.2:c.1713G>A	XP_011516445.1:p.Leu571=
XM_011518145.2:c.1572G>A	XP_011516447.1:p.Leu524=
XM_017014205.2:c.831G>A	XP_016869694.1:p.Leu277=
XM_024447380.1:c.831G>A	XP_024303148.1:p.Leu277=
XM_024447381.1:c.1137G>A	XP_024303149.1:p.Leu379=
XM_024447382.1:c.831G>A	XP_024303150.1:p.Leu277=
XR_001746160.2:n.2132G>A
XR_001746162.2:n.2337G>A
XR_001746164.1:n.2054G>A
XR_001746166.2:n.2349G>A
NM_001077365.2:c.1962G>A MANE Select	NP_001070833.1:p.Leu654=
NM_001077366.2:c.1800G>A	NP_001070834.1:p.Leu600=
NM_001136113.2:c.1962G>A	NP_001129585.1:p.Leu654=
NM_001136114.2:c.1611G>A	NP_001129586.1:p.Leu537=
NM_001353193.2:c.2028G>A	NP_001340122.2:p.Leu676=
NM_001353194.2:c.1800G>A	NP_001340123.1:p.Leu600=
NM_001353195.2:c.1611G>A	NP_001340124.1:p.Leu537=
NM_001353196.2:c.1872G>A	NP_001340125.1:p.Leu624=
NM_001353197.2:c.1866G>A	NP_001340126.2:p.Leu622=
NM_001353198.2:c.1866G>A	NP_001340127.2:p.Leu622=
NM_001353199.2:c.1677G>A	NP_001340128.2:p.Leu559=
NM_001353200.2:c.1506G>A	NP_001340129.1:p.Leu502=
NM_001374689.1:c.1950G>A	NP_001361618.1:p.Leu650=
NM_001374690.1:c.1743G>A	NP_001361619.1:p.Leu581=
NM_001374691.1:c.1611G>A	NP_001361620.1:p.Leu537=
NM_001374692.1:c.1611G>A	NP_001361621.1:p.Leu537=
NM_001374693.1:c.1611G>A	NP_001361622.1:p.Leu537=
NM_001374695.1:c.1572G>A	NP_001361624.1:p.Leu524=
NM_007171.4:c.2028G>A	NP_009102.4:p.Leu676=
NR_148391.2:n.1996G>A
NR_148392.2:n.2214G>A
NR_148393.2:n.2135G>A
NR_148394.2:n.1889G>A
NR_148395.2:n.2287G>A
NR_148396.2:n.1921G>A
NR_148397.2:n.2046G>A
NR_148398.2:n.2001G>A
NR_148399.2:n.2527G>A
NR_148400.2:n.2126G>A