Canonical Allele Identifier: CA414472204

Gene: ATP11C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139768298C>A , CM000685.2:g.139768298C>A	GRCh38
NC_000023.10:g.138850457C>A , CM000685.1:g.138850457C>A	GRCh37
NC_000023.9:g.138678123C>A	NCBI36
NG_016550.1:g.68991G>T
NG_016550.2:g.169786G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001353812.2:c.2353G>T MANE Select	NP_001340741.2:p.Val785Leu
ENST00000682941.1:c.2353G>T MANE Select	ENSP00000507250.1:p.Val785Leu
NM_001010986.2:c.2362G>T	NP_001010986.1:p.Val788Leu
NM_001010986.3:c.2362G>T	NP_001010986.2:p.Val788Leu
NM_001353810.1:c.2353G>T	NP_001340739.1:p.Val785Leu
NM_001353810.2:c.2353G>T	NP_001340739.2:p.Val785Leu
NM_001353811.1:c.2353G>T	NP_001340740.1:p.Val785Leu
NM_001353811.2:c.2353G>T	NP_001340740.2:p.Val785Leu
NM_001353812.1:c.2353G>T	NP_001340741.1:p.Val785Leu
NM_173694.4:c.2362G>T	NP_775965.2:p.Val788Leu
NM_173694.5:c.2362G>T	NP_775965.3:p.Val788Leu
ENST00000327569.7:c.2362G>T	ENSP00000332756.3:p.Val788Leu
ENST00000361648.6:c.2362G>T	ENSP00000355165.2:p.Val788Leu
ENST00000370557.5:c.2353G>T	ENSP00000359588.1:p.Val785Leu
ENST00000422228.2:c.2281G>T	ENSP00000394573.2:p.Val761Leu
ENST00000460773.5:n.1451G>T
ENST00000471746.1:n.488G>T
XM_011531320.1:c.2425G>T	XP_011529622.1:p.Val809Leu
XM_011531321.1:c.2425G>T	XP_011529623.1:p.Val809Leu
XM_011531322.1:c.2425G>T	XP_011529624.1:p.Val809Leu
XM_011531323.1:c.2425G>T	XP_011529625.1:p.Val809Leu
XM_011531324.1:c.2353G>T	XP_011529626.1:p.Val785Leu
XM_011531325.1:c.2425G>T	XP_011529627.1:p.Val809Leu
XM_011531326.1:c.2425G>T	XP_011529628.1:p.Val809Leu
XM_011531327.1:c.2335G>T	XP_011529629.1:p.Val779Leu
XM_017029439.2:c.2422G>T	XP_016884928.1:p.Val808Leu
XM_017029440.2:c.2413G>T	XP_016884929.1:p.Val805Leu
XM_017029441.1:c.2413G>T	XP_016884930.1:p.Val805Leu
XM_017029442.1:c.2395G>T	XP_016884931.1:p.Val799Leu
XM_017029443.2:c.2422G>T	XP_016884932.1:p.Val808Leu
XM_017029445.2:c.2422G>T	XP_016884934.1:p.Val808Leu
XM_017029446.2:c.2350G>T	XP_016884935.1:p.Val784Leu
XM_017029448.1:c.1750G>T	XP_016884937.1:p.Val584Leu
XM_017029449.1:c.1558G>T	XP_016884938.1:p.Val520Leu
XR_001755683.2:n.2472G>T
XR_001755684.2:n.3323G>T
XR_001755685.1:n.2743G>T
XR_002958774.1:n.2493G>T