Canonical Allele Identifier: CA388028530

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52516632C>T (hg19) ; chr13:g.51942496C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942496C>T , CM000675.2:g.51942496C>T	GRCh38
NC_000013.10:g.52516632C>T , CM000675.1:g.52516632C>T	GRCh37
NC_000013.9:g.51414633C>T	NCBI36
NG_008806.1:g.73999G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*952G>A	ENSP00000489512.2:n.*952G>A
ENST00000673864.2:c.*2046G>A	ENSP00000501045.2:n.*2046G>A
ENST00000674147.2:c.2681G>A	ENSP00000500964.2:p.Gly894Glu
ENST00000242839.10:c.3302G>A MANE Select	ENSP00000242839.5:p.Gly1101Glu
ENST00000344297.9:c.2681G>A	ENSP00000342559.5:p.Gly894Glu
ENST00000400366.6:c.2969G>A	ENSP00000383217.3:p.Gly990Glu
ENST00000448424.7:c.3050G>A	ENSP00000416738.3:p.Gly1017Glu
ENST00000673772.1:c.3068G>A	ENSP00000501168.1:p.Gly1023Glu
ENST00000673867.1:n.3441G>A
ENST00000674126.1:n.3665G>A
ENST00000674147.1:c.2237G>A	ENSP00000500964.1:p.Gly746Glu
ENST00000242839.8:c.3302G>A	ENSP00000242839.4:p.Gly1101Glu
ENST00000344297.8:c.2681G>A	ENSP00000342559.5:p.Gly894Glu
ENST00000400366.5:c.2969G>A	ENSP00000383217.3:p.Gly990Glu
ENST00000400370.8:c.2012G>A	ENSP00000383221.3:p.Gly671Glu
ENST00000418097.7:c.3107G>A	ENSP00000393343.2:p.Gly1036Glu
ENST00000448424.6:c.3068G>A	ENSP00000416738.2:p.Gly1023Glu
ENST00000634296.1:c.1080G>A
ENST00000634308.1:c.*403G>A	ENSP00000489234.1:n.*403G>A
ENST00000634620.1:n.4046G>A
ENST00000634810.1:n.2647G>A
ENST00000634844.1:c.3158G>A	ENSP00000489398.1:p.Gly1053Glu
NM_000053.3:c.3302G>A	NP_000044.2:p.Gly1101Glu
NM_001005918.2:c.2681G>A	NP_001005918.1:p.Gly894Glu
NM_001243182.1:c.2969G>A	NP_001230111.1:p.Gly990Glu
XM_005266423.2:c.3206G>A	XP_005266480.1:p.Gly1069Glu
XM_005266424.3:c.3206G>A	XP_005266481.1:p.Gly1069Glu
XM_005266427.2:c.3068G>A	XP_005266484.1:p.Gly1023Glu
XM_005266428.1:c.3050G>A	XP_005266485.1:p.Gly1017Glu
XM_005266430.3:c.3302G>A	XP_005266487.1:p.Gly1101Glu
XM_005266431.2:c.3266G>A	XP_005266488.1:p.Gly1089Glu
XM_005266432.2:c.2816G>A	XP_005266489.1:p.Gly939Glu
XM_006719837.2:c.3206G>A	XP_006719900.1:p.Gly1069Glu
XM_006719838.1:c.1118G>A	XP_006719901.1:p.Gly373Glu
XM_006719839.1:c.935G>A	XP_006719902.1:p.Gly312Glu
XM_011535117.1:c.3206G>A	XP_011533419.1:p.Gly1069Glu
XM_011535118.1:c.3167G>A	XP_011533420.1:p.Gly1056Glu
XM_011535119.1:c.3119G>A	XP_011533421.1:p.Gly1040Glu
XM_011535120.1:c.2888G>A	XP_011533422.1:p.Gly963Glu
XM_011535121.1:c.2789G>A	XP_011533423.1:p.Gly930Glu
XM_011535122.1:c.1970G>A	XP_011533424.1:p.Gly657Glu
XR_941601.1:n.3521G>A
XR_941602.1:n.3521G>A
XR_941603.1:n.3521G>A
XR_941604.1:n.3521G>A
NM_001330578.1:c.3068G>A	NP_001317507.1:p.Gly1023Glu
NM_001330579.1:c.3050G>A	NP_001317508.1:p.Gly1017Glu
XM_005266424.4:c.3206G>A	XP_005266481.1:p.Gly1069Glu
XM_005266430.4:c.3302G>A	XP_005266487.1:p.Gly1101Glu
XM_005266431.4:c.3266G>A	XP_005266488.1:p.Gly1089Glu
XM_006719837.3:c.3206G>A	XP_006719900.1:p.Gly1069Glu
XM_011535117.3:c.3206G>A	XP_011533419.1:p.Gly1069Glu
XM_017020627.1:c.3206G>A	XP_016876116.1:p.Gly1069Glu
NM_000053.4:c.3302G>A MANE Select	NP_000044.2:p.Gly1101Glu
NM_001005918.3:c.2681G>A	NP_001005918.1:p.Gly894Glu
NM_001330579.2:c.3050G>A	NP_001317508.1:p.Gly1017Glu
NM_001243182.2:c.2969G>A	NP_001230111.1:p.Gly990Glu
NM_001330578.2:c.3068G>A	NP_001317507.1:p.Gly1023Glu