Canonical Allele Identifier: CA388020863

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51937303-T-A
• MyVariant Identifiers: chr13:g.52511439T>A (hg19) ; chr13:g.51937303T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937303T>A , CM000675.2:g.51937303T>A	GRCh38
NC_000013.10:g.52511439T>A , CM000675.1:g.52511439T>A	GRCh37
NC_000013.9:g.51409440T>A	NCBI36
NG_008806.1:g.79192A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1644A>T	ENSP00000489512.2:n.*1644A>T
ENST00000673864.2:c.*2738A>T	ENSP00000501045.2:n.*2738A>T
ENST00000674147.2:c.3373A>T	ENSP00000500964.2:p.Asn1125Tyr
ENST00000242839.10:c.3994A>T MANE Select	ENSP00000242839.5:p.Asn1332Tyr
ENST00000344297.9:c.3373A>T	ENSP00000342559.5:p.Asn1125Tyr
ENST00000400366.6:c.3661A>T	ENSP00000383217.3:p.Asn1221Tyr
ENST00000448424.7:c.3742A>T	ENSP00000416738.3:p.Asn1248Tyr
ENST00000673696.1:n.1317A>T
ENST00000673772.1:c.3760A>T	ENSP00000501168.1:p.Asn1254Tyr
ENST00000673867.1:n.4133A>T
ENST00000673923.1:n.860A>T
ENST00000674147.1:c.2929A>T	ENSP00000500964.1:p.Asn977Tyr
ENST00000242839.8:c.3994A>T	ENSP00000242839.4:p.Asn1332Tyr
ENST00000344297.8:c.3373A>T	ENSP00000342559.5:p.Asn1125Tyr
ENST00000400366.5:c.3661A>T	ENSP00000383217.3:p.Asn1221Tyr
ENST00000400370.8:c.2704A>T	ENSP00000383221.3:p.Asn902Tyr
ENST00000418097.7:c.3799A>T	ENSP00000393343.2:p.Asn1267Tyr
ENST00000448424.6:c.3760A>T	ENSP00000416738.2:p.Asn1254Tyr
ENST00000634296.1:c.1772A>T
ENST00000634308.1:c.*1095A>T	ENSP00000489234.1:n.*1095A>T
ENST00000634620.1:n.4738A>T
ENST00000634810.1:n.3339A>T
ENST00000634844.1:c.3850A>T	ENSP00000489398.1:p.Asn1284Tyr
NM_000053.3:c.3994A>T	NP_000044.2:p.Asn1332Tyr
NM_001005918.2:c.3373A>T	NP_001005918.1:p.Asn1125Tyr
NM_001243182.1:c.3661A>T	NP_001230111.1:p.Asn1221Tyr
XM_005266423.2:c.3898A>T	XP_005266480.1:p.Asn1300Tyr
XM_005266424.3:c.3898A>T	XP_005266481.1:p.Asn1300Tyr
XM_005266427.2:c.3760A>T	XP_005266484.1:p.Asn1254Tyr
XM_005266428.1:c.3742A>T	XP_005266485.1:p.Asn1248Tyr
XM_005266430.3:c.3994A>T	XP_005266487.1:p.Asn1332Tyr
XM_005266431.2:c.3958A>T	XP_005266488.1:p.Asn1320Tyr
XM_005266432.2:c.3508A>T	XP_005266489.1:p.Asn1170Tyr
XM_006719837.2:c.3898A>T	XP_006719900.1:p.Asn1300Tyr
XM_006719838.1:c.1810A>T	XP_006719901.1:p.Asn604Tyr
XM_006719839.1:c.1627A>T	XP_006719902.1:p.Asn543Tyr
XM_011535117.1:c.3898A>T	XP_011533419.1:p.Asn1300Tyr
XM_011535118.1:c.3859A>T	XP_011533420.1:p.Asn1287Tyr
XM_011535119.1:c.3811A>T	XP_011533421.1:p.Asn1271Tyr
XM_011535120.1:c.3580A>T	XP_011533422.1:p.Asn1194Tyr
XM_011535121.1:c.3481A>T	XP_011533423.1:p.Asn1161Tyr
XM_011535122.1:c.2662A>T	XP_011533424.1:p.Asn888Tyr
XR_941601.1:n.4213A>T
XR_941602.1:n.4213A>T
XR_941603.1:n.4213A>T
XR_941604.1:n.4213A>T
NM_001330578.1:c.3760A>T	NP_001317507.1:p.Asn1254Tyr
NM_001330579.1:c.3742A>T	NP_001317508.1:p.Asn1248Tyr
XM_005266424.4:c.3898A>T	XP_005266481.1:p.Asn1300Tyr
XM_005266430.4:c.3994A>T	XP_005266487.1:p.Asn1332Tyr
XM_005266431.4:c.3958A>T	XP_005266488.1:p.Asn1320Tyr
XM_006719837.3:c.3898A>T	XP_006719900.1:p.Asn1300Tyr
XM_011535117.3:c.3898A>T	XP_011533419.1:p.Asn1300Tyr
XM_017020627.1:c.3898A>T	XP_016876116.1:p.Asn1300Tyr
NM_000053.4:c.3994A>T MANE Select	NP_000044.2:p.Asn1332Tyr
NM_001005918.3:c.3373A>T	NP_001005918.1:p.Asn1125Tyr
NM_001330579.2:c.3742A>T	NP_001317508.1:p.Asn1248Tyr
NM_001243182.2:c.3661A>T	NP_001230111.1:p.Asn1221Tyr
NM_001330578.2:c.3760A>T	NP_001317507.1:p.Asn1254Tyr