Canonical Allele Identifier: CA483893942

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515245T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941109T>C , CM000675.2:g.51941109T>C	GRCh38
NC_000013.10:g.52515245T>C , CM000675.1:g.52515245T>C	GRCh37
NC_000013.9:g.51413246T>C	NCBI36
NG_008806.1:g.75386A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1178A>G	ENSP00000489512.2:n.*1178A>G
ENST00000673864.2:c.*2272A>G	ENSP00000501045.2:n.*2272A>G
ENST00000674147.2:c.2907A>G	ENSP00000500964.2:p.Gly969=
ENST00000242839.10:c.3528A>G MANE Select	ENSP00000242839.5:p.Gly1176=
ENST00000344297.9:c.2907A>G	ENSP00000342559.5:p.Gly969=
ENST00000400366.6:c.3195A>G	ENSP00000383217.3:p.Gly1065=
ENST00000448424.7:c.3276A>G	ENSP00000416738.3:p.Gly1092=
ENST00000673772.1:c.3294A>G	ENSP00000501168.1:p.Gly1098=
ENST00000673867.1:n.3667A>G
ENST00000674126.1:n.3891A>G
ENST00000674147.1:c.2463A>G	ENSP00000500964.1:p.Gly821=
ENST00000242839.8:c.3528A>G	ENSP00000242839.4:p.Gly1176=
ENST00000344297.8:c.2907A>G	ENSP00000342559.5:p.Gly969=
ENST00000400366.5:c.3195A>G	ENSP00000383217.3:p.Gly1065=
ENST00000400370.8:c.2238A>G	ENSP00000383221.3:p.Gly746=
ENST00000418097.7:c.3333A>G	ENSP00000393343.2:p.Gly1111=
ENST00000448424.6:c.3294A>G	ENSP00000416738.2:p.Gly1098=
ENST00000634296.1:c.1306A>G
ENST00000634308.1:c.*629A>G	ENSP00000489234.1:n.*629A>G
ENST00000634620.1:n.4272A>G
ENST00000634810.1:n.2873A>G
ENST00000634844.1:c.3384A>G	ENSP00000489398.1:p.Gly1128=
NM_000053.3:c.3528A>G	NP_000044.2:p.Gly1176=
NM_001005918.2:c.2907A>G	NP_001005918.1:p.Gly969=
NM_001243182.1:c.3195A>G	NP_001230111.1:p.Gly1065=
XM_005266423.2:c.3432A>G	XP_005266480.1:p.Gly1144=
XM_005266424.3:c.3432A>G	XP_005266481.1:p.Gly1144=
XM_005266427.2:c.3294A>G	XP_005266484.1:p.Gly1098=
XM_005266428.1:c.3276A>G	XP_005266485.1:p.Gly1092=
XM_005266430.3:c.3528A>G	XP_005266487.1:p.Gly1176=
XM_005266431.2:c.3492A>G	XP_005266488.1:p.Gly1164=
XM_005266432.2:c.3042A>G	XP_005266489.1:p.Gly1014=
XM_006719837.2:c.3432A>G	XP_006719900.1:p.Gly1144=
XM_006719838.1:c.1344A>G	XP_006719901.1:p.Gly448=
XM_006719839.1:c.1161A>G	XP_006719902.1:p.Gly387=
XM_011535117.1:c.3432A>G	XP_011533419.1:p.Gly1144=
XM_011535118.1:c.3393A>G	XP_011533420.1:p.Gly1131=
XM_011535119.1:c.3345A>G	XP_011533421.1:p.Gly1115=
XM_011535120.1:c.3114A>G	XP_011533422.1:p.Gly1038=
XM_011535121.1:c.3015A>G	XP_011533423.1:p.Gly1005=
XM_011535122.1:c.2196A>G	XP_011533424.1:p.Gly732=
XR_941601.1:n.3747A>G
XR_941602.1:n.3747A>G
XR_941603.1:n.3747A>G
XR_941604.1:n.3747A>G
NM_001330578.1:c.3294A>G	NP_001317507.1:p.Gly1098=
NM_001330579.1:c.3276A>G	NP_001317508.1:p.Gly1092=
XM_005266424.4:c.3432A>G	XP_005266481.1:p.Gly1144=
XM_005266430.4:c.3528A>G	XP_005266487.1:p.Gly1176=
XM_005266431.4:c.3492A>G	XP_005266488.1:p.Gly1164=
XM_006719837.3:c.3432A>G	XP_006719900.1:p.Gly1144=
XM_011535117.3:c.3432A>G	XP_011533419.1:p.Gly1144=
XM_017020627.1:c.3432A>G	XP_016876116.1:p.Gly1144=
NM_000053.4:c.3528A>G MANE Select	NP_000044.2:p.Gly1176=
NM_001005918.3:c.2907A>G	NP_001005918.1:p.Gly969=
NM_001330579.2:c.3276A>G	NP_001317508.1:p.Gly1092=
NM_001243182.2:c.3195A>G	NP_001230111.1:p.Gly1065=
NM_001330578.2:c.3294A>G	NP_001317507.1:p.Gly1098=