Canonical Allele Identifier: CA250084943

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51949775C>T , CM000675.2:g.51949775C>T	GRCh38
NC_000013.10:g.52523911C>T , CM000675.1:g.52523911C>T	GRCh37
NC_000013.9:g.51421912C>T	NCBI36
NG_008806.1:g.66720G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000053.4:c.2752G>A MANE Select	NP_000044.2:p.Asp918Asn
ENST00000242839.10:c.2752G>A MANE Select	ENSP00000242839.5:p.Asp918Asn
NM_000053.3:c.2752G>A	NP_000044.2:p.Asp918Asn
NM_001005918.2:c.2244+232G>A	NP_001005918.1:n.2244+232G>A
NM_001005918.3:c.2244+232G>A	NP_001005918.1:n.2244+232G>A
NM_001243182.1:c.2419G>A	NP_001230111.1:p.Asp807Asn
NM_001243182.2:c.2419G>A	NP_001230111.1:p.Asp807Asn
NM_001330578.1:c.2518G>A	NP_001317507.1:p.Asp840Asn
NM_001330578.2:c.2518G>A	NP_001317507.1:p.Asp840Asn
NM_001330579.1:c.2500G>A	NP_001317508.1:p.Asp834Asn
NM_001330579.2:c.2500G>A	NP_001317508.1:p.Asp834Asn
ENST00000242839.8:c.2752G>A	ENSP00000242839.4:p.Asp918Asn
ENST00000344297.8:c.2244+232G>A	ENSP00000342559.5:n.2244+232G>A
ENST00000344297.9:c.2244+232G>A	ENSP00000342559.5:n.2244+232G>A
ENST00000400366.5:c.2419G>A	ENSP00000383217.3:p.Asp807Asn
ENST00000400366.6:c.2419G>A	ENSP00000383217.3:p.Asp807Asn
ENST00000400370.8:c.1462G>A	ENSP00000383221.3:p.Asp488Asn
ENST00000418097.7:c.2752G>A	ENSP00000393343.2:p.Asp918Asn
ENST00000448424.6:c.2518G>A	ENSP00000416738.2:p.Asp840Asn
ENST00000448424.7:c.2500G>A	ENSP00000416738.3:p.Asp834Asn
ENST00000634296.1:c.713G>A
ENST00000634296.2:c.*585G>A	ENSP00000489512.2:n.*585G>A
ENST00000634308.1:c.2518G>A	ENSP00000489234.1:p.Asp840Asn
ENST00000634620.1:n.3550G>A
ENST00000634810.1:n.2097G>A
ENST00000634844.1:c.2608G>A	ENSP00000489398.1:p.Asp870Asn
ENST00000635406.1:n.212-3297G>A
ENST00000673772.1:c.2518G>A	ENSP00000501168.1:p.Asp840Asn
ENST00000673864.2:c.*1496G>A	ENSP00000501045.2:n.*1496G>A
ENST00000674147.1:c.1800+232G>A	ENSP00000500964.1:n.1800+232G>A
ENST00000674147.2:c.2244+232G>A	ENSP00000500964.2:n.2244+232G>A
XM_005266423.2:c.2656G>A	XP_005266480.1:p.Asp886Asn
XM_005266424.3:c.2656G>A	XP_005266481.1:p.Asp886Asn
XM_005266424.4:c.2656G>A	XP_005266481.1:p.Asp886Asn
XM_005266427.2:c.2518G>A	XP_005266484.1:p.Asp840Asn
XM_005266428.1:c.2500G>A	XP_005266485.1:p.Asp834Asn
XM_005266430.3:c.2752G>A	XP_005266487.1:p.Asp918Asn
XM_005266430.4:c.2752G>A	XP_005266487.1:p.Asp918Asn
XM_005266431.2:c.2716G>A	XP_005266488.1:p.Asp906Asn
XM_005266431.4:c.2716G>A	XP_005266488.1:p.Asp906Asn
XM_005266432.2:c.2266G>A	XP_005266489.1:p.Asp756Asn
XM_006719837.2:c.2656G>A	XP_006719900.1:p.Asp886Asn
XM_006719837.3:c.2656G>A	XP_006719900.1:p.Asp886Asn
XM_006719838.1:c.568G>A	XP_006719901.1:p.Asp190Asn
XM_006719839.1:c.568G>A	XP_006719902.1:p.Asp190Asn
XM_011535117.1:c.2656G>A	XP_011533419.1:p.Asp886Asn
XM_011535117.3:c.2656G>A	XP_011533419.1:p.Asp886Asn
XM_011535118.1:c.2730+232G>A	XP_011533420.1:n.2730+232G>A
XM_011535119.1:c.2752G>A	XP_011533421.1:p.Asp918Asn
XM_011535120.1:c.2338G>A	XP_011533422.1:p.Asp780Asn
XM_011535121.1:c.2730+232G>A	XP_011533423.1:n.2730+232G>A
XM_011535122.1:c.1420G>A	XP_011533424.1:p.Asp474Asn
XM_017020627.1:c.2656G>A	XP_016876116.1:p.Asp886Asn
XR_941601.1:n.2971G>A
XR_941602.1:n.2971G>A
XR_941603.1:n.2971G>A
XR_941604.1:n.2971G>A