Canonical Allele Identifier: CA388032517

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520593G>A (hg19) ; chr13:g.51946457G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946457G>A , CM000675.2:g.51946457G>A	GRCh38
NC_000013.10:g.52520593G>A , CM000675.1:g.52520593G>A	GRCh37
NC_000013.9:g.51418594G>A	NCBI36
NG_008806.1:g.70038C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*720C>T	ENSP00000489512.2:n.*720C>T
ENST00000673864.2:c.*1631C>T	ENSP00000501045.2:n.*1631C>T
ENST00000674147.2:c.2266C>T	ENSP00000500964.2:p.Gln756Ter
ENST00000242839.10:c.2887C>T MANE Select	ENSP00000242839.5:p.Gln963Ter
ENST00000344297.9:c.2266C>T	ENSP00000342559.5:p.Gln756Ter
ENST00000400366.6:c.2554C>T	ENSP00000383217.3:p.Gln852Ter
ENST00000448424.7:c.2635C>T	ENSP00000416738.3:p.Gln879Ter
ENST00000673772.1:c.2653C>T	ENSP00000501168.1:p.Gln885Ter
ENST00000673867.1:n.1034C>T
ENST00000674126.1:n.3250C>T
ENST00000674147.1:c.1822C>T	ENSP00000500964.1:p.Gln608Ter
ENST00000242839.8:c.2887C>T	ENSP00000242839.4:p.Gln963Ter
ENST00000344297.8:c.2266C>T	ENSP00000342559.5:p.Gln756Ter
ENST00000400366.5:c.2554C>T	ENSP00000383217.3:p.Gln852Ter
ENST00000400370.8:c.1597C>T	ENSP00000383221.3:p.Gln533Ter
ENST00000418097.7:c.2866-2166C>T	ENSP00000393343.2:n.2866-2166C>T
ENST00000448424.6:c.2653C>T	ENSP00000416738.2:p.Gln885Ter
ENST00000466629.1:n.107C>T
ENST00000634296.1:c.848C>T
ENST00000634308.1:c.2673C>T	ENSP00000489234.1:p.Pro891=
ENST00000634620.1:n.3631C>T
ENST00000634810.1:n.2232C>T
ENST00000634844.1:c.2743C>T	ENSP00000489398.1:p.Gln915Ter
ENST00000635406.1:n.233C>T
NM_000053.3:c.2887C>T	NP_000044.2:p.Gln963Ter
NM_001005918.2:c.2266C>T	NP_001005918.1:p.Gln756Ter
NM_001243182.1:c.2554C>T	NP_001230111.1:p.Gln852Ter
XM_005266423.2:c.2791C>T	XP_005266480.1:p.Gln931Ter
XM_005266424.3:c.2791C>T	XP_005266481.1:p.Gln931Ter
XM_005266427.2:c.2653C>T	XP_005266484.1:p.Gln885Ter
XM_005266428.1:c.2635C>T	XP_005266485.1:p.Gln879Ter
XM_005266430.3:c.2887C>T	XP_005266487.1:p.Gln963Ter
XM_005266431.2:c.2851C>T	XP_005266488.1:p.Gln951Ter
XM_005266432.2:c.2401C>T	XP_005266489.1:p.Gln801Ter
XM_006719837.2:c.2791C>T	XP_006719900.1:p.Gln931Ter
XM_006719838.1:c.703C>T	XP_006719901.1:p.Gln235Ter
XM_006719839.1:c.703C>T	XP_006719902.1:p.Gln235Ter
XM_011535117.1:c.2791C>T	XP_011533419.1:p.Gln931Ter
XM_011535118.1:c.2752C>T	XP_011533420.1:p.Gln918Ter
XM_011535119.1:c.2887C>T	XP_011533421.1:p.Gln963Ter
XM_011535120.1:c.2473C>T	XP_011533422.1:p.Gln825Ter
XM_011535121.1:c.2730+3550C>T	XP_011533423.1:n.2730+3550C>T
XM_011535122.1:c.1555C>T	XP_011533424.1:p.Gln519Ter
XR_941601.1:n.3106C>T
XR_941602.1:n.3106C>T
XR_941603.1:n.3106C>T
XR_941604.1:n.3106C>T
NM_001330578.1:c.2653C>T	NP_001317507.1:p.Gln885Ter
NM_001330579.1:c.2635C>T	NP_001317508.1:p.Gln879Ter
XM_005266424.4:c.2791C>T	XP_005266481.1:p.Gln931Ter
XM_005266430.4:c.2887C>T	XP_005266487.1:p.Gln963Ter
XM_005266431.4:c.2851C>T	XP_005266488.1:p.Gln951Ter
XM_006719837.3:c.2791C>T	XP_006719900.1:p.Gln931Ter
XM_011535117.3:c.2791C>T	XP_011533419.1:p.Gln931Ter
XM_017020627.1:c.2791C>T	XP_016876116.1:p.Gln931Ter
NM_000053.4:c.2887C>T MANE Select	NP_000044.2:p.Gln963Ter
NM_001005918.3:c.2266C>T	NP_001005918.1:p.Gln756Ter
NM_001330579.2:c.2635C>T	NP_001317508.1:p.Gln879Ter
NM_001243182.2:c.2554C>T	NP_001230111.1:p.Gln852Ter
NM_001330578.2:c.2653C>T	NP_001317507.1:p.Gln885Ter