Canonical Allele Identifier: CA388020239

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52509813C>G (hg19) ; chr13:g.51935677C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51935677C>G , CM000675.2:g.51935677C>G	GRCh38
NC_000013.10:g.52509813C>G , CM000675.1:g.52509813C>G	GRCh37
NC_000013.9:g.51407814C>G	NCBI36
NG_008806.1:g.80818G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1690G>C	ENSP00000489512.2:n.*1690G>C
ENST00000673864.2:c.*2784G>C	ENSP00000501045.2:n.*2784G>C
ENST00000674147.2:c.3419G>C	ENSP00000500964.2:p.Gly1140Ala
ENST00000242839.10:c.4040G>C MANE Select	ENSP00000242839.5:p.Gly1347Ala
ENST00000344297.9:c.3419G>C	ENSP00000342559.5:p.Gly1140Ala
ENST00000400366.6:c.3707G>C	ENSP00000383217.3:p.Gly1236Ala
ENST00000448424.7:c.3788G>C	ENSP00000416738.3:p.Gly1263Ala
ENST00000673696.1:n.1363G>C
ENST00000673772.1:c.3806G>C	ENSP00000501168.1:p.Gly1269Ala
ENST00000673867.1:n.4179G>C
ENST00000673923.1:n.906G>C
ENST00000674147.1:c.2975G>C	ENSP00000500964.1:p.Gly992Ala
ENST00000242839.8:c.4040G>C	ENSP00000242839.4:p.Gly1347Ala
ENST00000344297.8:c.3419G>C	ENSP00000342559.5:p.Gly1140Ala
ENST00000400366.5:c.3707G>C	ENSP00000383217.3:p.Gly1236Ala
ENST00000400370.8:c.2750G>C	ENSP00000383221.3:p.Gly917Ala
ENST00000418097.7:c.3845G>C	ENSP00000393343.2:p.Gly1282Ala
ENST00000448424.6:c.3806G>C	ENSP00000416738.2:p.Gly1269Ala
ENST00000634296.1:c.1818G>C
ENST00000634308.1:c.*1141G>C	ENSP00000489234.1:n.*1141G>C
ENST00000634620.1:n.4784G>C
ENST00000634810.1:n.3385G>C
ENST00000634844.1:c.3896G>C	ENSP00000489398.1:p.Gly1299Ala
NM_000053.3:c.4040G>C	NP_000044.2:p.Gly1347Ala
NM_001005918.2:c.3419G>C	NP_001005918.1:p.Gly1140Ala
NM_001243182.1:c.3707G>C	NP_001230111.1:p.Gly1236Ala
XM_005266423.2:c.3944G>C	XP_005266480.1:p.Gly1315Ala
XM_005266424.3:c.3944G>C	XP_005266481.1:p.Gly1315Ala
XM_005266427.2:c.3806G>C	XP_005266484.1:p.Gly1269Ala
XM_005266428.1:c.3788G>C	XP_005266485.1:p.Gly1263Ala
XM_005266430.3:c.4040G>C	XP_005266487.1:p.Gly1347Ala
XM_005266431.2:c.4004G>C	XP_005266488.1:p.Gly1335Ala
XM_005266432.2:c.3554G>C	XP_005266489.1:p.Gly1185Ala
XM_006719837.2:c.3944G>C	XP_006719900.1:p.Gly1315Ala
XM_006719838.1:c.1856G>C	XP_006719901.1:p.Gly619Ala
XM_006719839.1:c.1673G>C	XP_006719902.1:p.Gly558Ala
XM_011535117.1:c.3944G>C	XP_011533419.1:p.Gly1315Ala
XM_011535118.1:c.3905G>C	XP_011533420.1:p.Gly1302Ala
XM_011535119.1:c.3857G>C	XP_011533421.1:p.Gly1286Ala
XM_011535120.1:c.3626G>C	XP_011533422.1:p.Gly1209Ala
XM_011535121.1:c.3527G>C	XP_011533423.1:p.Gly1176Ala
XM_011535122.1:c.2708G>C	XP_011533424.1:p.Gly903Ala
XR_941601.1:n.4259G>C
XR_941602.1:n.4259G>C
XR_941603.1:n.4259G>C
XR_941604.1:n.4259G>C
NM_001330578.1:c.3806G>C	NP_001317507.1:p.Gly1269Ala
NM_001330579.1:c.3788G>C	NP_001317508.1:p.Gly1263Ala
XM_005266424.4:c.3944G>C	XP_005266481.1:p.Gly1315Ala
XM_005266430.4:c.4040G>C	XP_005266487.1:p.Gly1347Ala
XM_005266431.4:c.4004G>C	XP_005266488.1:p.Gly1335Ala
XM_006719837.3:c.3944G>C	XP_006719900.1:p.Gly1315Ala
XM_011535117.3:c.3944G>C	XP_011533419.1:p.Gly1315Ala
XM_017020627.1:c.3944G>C	XP_016876116.1:p.Gly1315Ala
NM_000053.4:c.4040G>C MANE Select	NP_000044.2:p.Gly1347Ala
NM_001005918.3:c.3419G>C	NP_001005918.1:p.Gly1140Ala
NM_001330579.2:c.3788G>C	NP_001317508.1:p.Gly1263Ala
NM_001243182.2:c.3707G>C	NP_001230111.1:p.Gly1236Ala
NM_001330578.2:c.3806G>C	NP_001317507.1:p.Gly1269Ala