Canonical Allele Identifier: CA388024335

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51939149-C-A
• MyVariant Identifiers: chr13:g.52513285C>A (hg19) ; chr13:g.51939149C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939149C>A , CM000675.2:g.51939149C>A	GRCh38
NC_000013.10:g.52513285C>A , CM000675.1:g.52513285C>A	GRCh37
NC_000013.9:g.51411286C>A	NCBI36
NG_008806.1:g.77346G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1251G>T	ENSP00000489512.2:n.*1251G>T
ENST00000673864.2:c.*2345G>T	ENSP00000501045.2:n.*2345G>T
ENST00000674147.2:c.2980G>T	ENSP00000500964.2:p.Glu994Ter
ENST00000242839.10:c.3601G>T MANE Select	ENSP00000242839.5:p.Glu1201Ter
ENST00000344297.9:c.2980G>T	ENSP00000342559.5:p.Glu994Ter
ENST00000400366.6:c.3268G>T	ENSP00000383217.3:p.Glu1090Ter
ENST00000448424.7:c.3349G>T	ENSP00000416738.3:p.Glu1117Ter
ENST00000673696.1:n.842G>T
ENST00000673772.1:c.3367G>T	ENSP00000501168.1:p.Glu1123Ter
ENST00000673867.1:n.3740G>T
ENST00000673923.1:n.467G>T
ENST00000674147.1:c.2536G>T	ENSP00000500964.1:p.Glu846Ter
ENST00000242839.8:c.3601G>T	ENSP00000242839.4:p.Glu1201Ter
ENST00000344297.8:c.2980G>T	ENSP00000342559.5:p.Glu994Ter
ENST00000400366.5:c.3268G>T	ENSP00000383217.3:p.Glu1090Ter
ENST00000400370.8:c.2311G>T	ENSP00000383221.3:p.Glu771Ter
ENST00000418097.7:c.3406G>T	ENSP00000393343.2:p.Glu1136Ter
ENST00000448424.6:c.3367G>T	ENSP00000416738.2:p.Glu1123Ter
ENST00000634296.1:c.1379G>T
ENST00000634308.1:c.*702G>T	ENSP00000489234.1:n.*702G>T
ENST00000634620.1:n.4345G>T
ENST00000634810.1:n.2946G>T
ENST00000634844.1:c.3457G>T	ENSP00000489398.1:p.Glu1153Ter
NM_000053.3:c.3601G>T	NP_000044.2:p.Glu1201Ter
NM_001005918.2:c.2980G>T	NP_001005918.1:p.Glu994Ter
NM_001243182.1:c.3268G>T	NP_001230111.1:p.Glu1090Ter
XM_005266423.2:c.3505G>T	XP_005266480.1:p.Glu1169Ter
XM_005266424.3:c.3505G>T	XP_005266481.1:p.Glu1169Ter
XM_005266427.2:c.3367G>T	XP_005266484.1:p.Glu1123Ter
XM_005266428.1:c.3349G>T	XP_005266485.1:p.Glu1117Ter
XM_005266430.3:c.3601G>T	XP_005266487.1:p.Glu1201Ter
XM_005266431.2:c.3565G>T	XP_005266488.1:p.Glu1189Ter
XM_005266432.2:c.3115G>T	XP_005266489.1:p.Glu1039Ter
XM_006719837.2:c.3505G>T	XP_006719900.1:p.Glu1169Ter
XM_006719838.1:c.1417G>T	XP_006719901.1:p.Glu473Ter
XM_006719839.1:c.1234G>T	XP_006719902.1:p.Glu412Ter
XM_011535117.1:c.3505G>T	XP_011533419.1:p.Glu1169Ter
XM_011535118.1:c.3466G>T	XP_011533420.1:p.Glu1156Ter
XM_011535119.1:c.3418G>T	XP_011533421.1:p.Glu1140Ter
XM_011535120.1:c.3187G>T	XP_011533422.1:p.Glu1063Ter
XM_011535121.1:c.3088G>T	XP_011533423.1:p.Glu1030Ter
XM_011535122.1:c.2269G>T	XP_011533424.1:p.Glu757Ter
XR_941601.1:n.3820G>T
XR_941602.1:n.3820G>T
XR_941603.1:n.3820G>T
XR_941604.1:n.3820G>T
NM_001330578.1:c.3367G>T	NP_001317507.1:p.Glu1123Ter
NM_001330579.1:c.3349G>T	NP_001317508.1:p.Glu1117Ter
XM_005266424.4:c.3505G>T	XP_005266481.1:p.Glu1169Ter
XM_005266430.4:c.3601G>T	XP_005266487.1:p.Glu1201Ter
XM_005266431.4:c.3565G>T	XP_005266488.1:p.Glu1189Ter
XM_006719837.3:c.3505G>T	XP_006719900.1:p.Glu1169Ter
XM_011535117.3:c.3505G>T	XP_011533419.1:p.Glu1169Ter
XM_017020627.1:c.3505G>T	XP_016876116.1:p.Glu1169Ter
NM_000053.4:c.3601G>T MANE Select	NP_000044.2:p.Glu1201Ter
NM_001005918.3:c.2980G>T	NP_001005918.1:p.Glu994Ter
NM_001330579.2:c.3349G>T	NP_001317508.1:p.Glu1117Ter
NM_001243182.2:c.3268G>T	NP_001230111.1:p.Glu1090Ter
NM_001330578.2:c.3367G>T	NP_001317507.1:p.Glu1123Ter