Canonical Allele Identifier: CA171317

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 157950
• ClinVar RCV Id: RCV000145275
• dbSNP Id: rs587783313
• MyVariant Identifiers: chr13:g.52515345G>T (hg19) ; chr13:g.51941209G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941209G>T , CM000675.2:g.51941209G>T	GRCh38
NC_000013.10:g.52515345G>T , CM000675.1:g.52515345G>T	GRCh37
NC_000013.9:g.51413346G>T	NCBI36
NG_008806.1:g.75286C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1078C>A	ENSP00000489512.2:n.*1078C>A
ENST00000673864.2:c.*2172C>A	ENSP00000501045.2:n.*2172C>A
ENST00000674147.2:c.2807C>A	ENSP00000500964.2:p.Thr936Asn
ENST00000242839.10:c.3428C>A MANE Select	ENSP00000242839.5:p.Thr1143Asn
ENST00000344297.9:c.2807C>A	ENSP00000342559.5:p.Thr936Asn
ENST00000400366.6:c.3095C>A	ENSP00000383217.3:p.Thr1032Asn
ENST00000448424.7:c.3176C>A	ENSP00000416738.3:p.Thr1059Asn
ENST00000673772.1:c.3194C>A	ENSP00000501168.1:p.Thr1065Asn
ENST00000673867.1:n.3567C>A
ENST00000674126.1:n.3791C>A
ENST00000674147.1:c.2363C>A	ENSP00000500964.1:p.Thr788Asn
ENST00000242839.8:c.3428C>A	ENSP00000242839.4:p.Thr1143Asn
ENST00000344297.8:c.2807C>A	ENSP00000342559.5:p.Thr936Asn
ENST00000400366.5:c.3095C>A	ENSP00000383217.3:p.Thr1032Asn
ENST00000400370.8:c.2138C>A	ENSP00000383221.3:p.Thr713Asn
ENST00000418097.7:c.3233C>A	ENSP00000393343.2:p.Thr1078Asn
ENST00000448424.6:c.3194C>A	ENSP00000416738.2:p.Thr1065Asn
ENST00000634296.1:c.1206C>A
ENST00000634308.1:c.*529C>A	ENSP00000489234.1:n.*529C>A
ENST00000634620.1:n.4172C>A
ENST00000634810.1:n.2773C>A
ENST00000634844.1:c.3284C>A	ENSP00000489398.1:p.Thr1095Asn
NM_000053.3:c.3428C>A	NP_000044.2:p.Thr1143Asn
NM_001005918.2:c.2807C>A	NP_001005918.1:p.Thr936Asn
NM_001243182.1:c.3095C>A	NP_001230111.1:p.Thr1032Asn
XM_005266423.2:c.3332C>A	XP_005266480.1:p.Thr1111Asn
XM_005266424.3:c.3332C>A	XP_005266481.1:p.Thr1111Asn
XM_005266427.2:c.3194C>A	XP_005266484.1:p.Thr1065Asn
XM_005266428.1:c.3176C>A	XP_005266485.1:p.Thr1059Asn
XM_005266430.3:c.3428C>A	XP_005266487.1:p.Thr1143Asn
XM_005266431.2:c.3392C>A	XP_005266488.1:p.Thr1131Asn
XM_005266432.2:c.2942C>A	XP_005266489.1:p.Thr981Asn
XM_006719837.2:c.3332C>A	XP_006719900.1:p.Thr1111Asn
XM_006719838.1:c.1244C>A	XP_006719901.1:p.Thr415Asn
XM_006719839.1:c.1061C>A	XP_006719902.1:p.Thr354Asn
XM_011535117.1:c.3332C>A	XP_011533419.1:p.Thr1111Asn
XM_011535118.1:c.3293C>A	XP_011533420.1:p.Thr1098Asn
XM_011535119.1:c.3245C>A	XP_011533421.1:p.Thr1082Asn
XM_011535120.1:c.3014C>A	XP_011533422.1:p.Thr1005Asn
XM_011535121.1:c.2915C>A	XP_011533423.1:p.Thr972Asn
XM_011535122.1:c.2096C>A	XP_011533424.1:p.Thr699Asn
XR_941601.1:n.3647C>A
XR_941602.1:n.3647C>A
XR_941603.1:n.3647C>A
XR_941604.1:n.3647C>A
NM_001330578.1:c.3194C>A	NP_001317507.1:p.Thr1065Asn
NM_001330579.1:c.3176C>A	NP_001317508.1:p.Thr1059Asn
XM_005266424.4:c.3332C>A	XP_005266481.1:p.Thr1111Asn
XM_005266430.4:c.3428C>A	XP_005266487.1:p.Thr1143Asn
XM_005266431.4:c.3392C>A	XP_005266488.1:p.Thr1131Asn
XM_006719837.3:c.3332C>A	XP_006719900.1:p.Thr1111Asn
XM_011535117.3:c.3332C>A	XP_011533419.1:p.Thr1111Asn
XM_017020627.1:c.3332C>A	XP_016876116.1:p.Thr1111Asn
NM_000053.4:c.3428C>A MANE Select	NP_000044.2:p.Thr1143Asn
NM_001005918.3:c.2807C>A	NP_001005918.1:p.Thr936Asn
NM_001330579.2:c.3176C>A	NP_001317508.1:p.Thr1059Asn
NM_001243182.2:c.3095C>A	NP_001230111.1:p.Thr1032Asn
NM_001330578.2:c.3194C>A	NP_001317507.1:p.Thr1065Asn