Canonical Allele Identifier: CA388028421

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52516618C>A (hg19) ; chr13:g.51942482C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942482C>A , CM000675.2:g.51942482C>A	GRCh38
NC_000013.10:g.52516618C>A , CM000675.1:g.52516618C>A	GRCh37
NC_000013.9:g.51414619C>A	NCBI36
NG_008806.1:g.74013G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*966G>T	ENSP00000489512.2:n.*966G>T
ENST00000673864.2:c.*2060G>T	ENSP00000501045.2:n.*2060G>T
ENST00000674147.2:c.2695G>T	ENSP00000500964.2:p.Val899Phe
ENST00000242839.10:c.3316G>T MANE Select	ENSP00000242839.5:p.Val1106Phe
ENST00000344297.9:c.2695G>T	ENSP00000342559.5:p.Val899Phe
ENST00000400366.6:c.2983G>T	ENSP00000383217.3:p.Val995Phe
ENST00000448424.7:c.3064G>T	ENSP00000416738.3:p.Val1022Phe
ENST00000673772.1:c.3082G>T	ENSP00000501168.1:p.Val1028Phe
ENST00000673867.1:n.3455G>T
ENST00000674126.1:n.3679G>T
ENST00000674147.1:c.2251G>T	ENSP00000500964.1:p.Val751Phe
ENST00000242839.8:c.3316G>T	ENSP00000242839.4:p.Val1106Phe
ENST00000344297.8:c.2695G>T	ENSP00000342559.5:p.Val899Phe
ENST00000400366.5:c.2983G>T	ENSP00000383217.3:p.Val995Phe
ENST00000400370.8:c.2026G>T	ENSP00000383221.3:p.Val676Phe
ENST00000418097.7:c.3121G>T	ENSP00000393343.2:p.Val1041Phe
ENST00000448424.6:c.3082G>T	ENSP00000416738.2:p.Val1028Phe
ENST00000634296.1:c.1094G>T
ENST00000634308.1:c.*417G>T	ENSP00000489234.1:n.*417G>T
ENST00000634620.1:n.4060G>T
ENST00000634810.1:n.2661G>T
ENST00000634844.1:c.3172G>T	ENSP00000489398.1:p.Val1058Phe
NM_000053.3:c.3316G>T	NP_000044.2:p.Val1106Phe
NM_001005918.2:c.2695G>T	NP_001005918.1:p.Val899Phe
NM_001243182.1:c.2983G>T	NP_001230111.1:p.Val995Phe
XM_005266423.2:c.3220G>T	XP_005266480.1:p.Val1074Phe
XM_005266424.3:c.3220G>T	XP_005266481.1:p.Val1074Phe
XM_005266427.2:c.3082G>T	XP_005266484.1:p.Val1028Phe
XM_005266428.1:c.3064G>T	XP_005266485.1:p.Val1022Phe
XM_005266430.3:c.3316G>T	XP_005266487.1:p.Val1106Phe
XM_005266431.2:c.3280G>T	XP_005266488.1:p.Val1094Phe
XM_005266432.2:c.2830G>T	XP_005266489.1:p.Val944Phe
XM_006719837.2:c.3220G>T	XP_006719900.1:p.Val1074Phe
XM_006719838.1:c.1132G>T	XP_006719901.1:p.Val378Phe
XM_006719839.1:c.949G>T	XP_006719902.1:p.Val317Phe
XM_011535117.1:c.3220G>T	XP_011533419.1:p.Val1074Phe
XM_011535118.1:c.3181G>T	XP_011533420.1:p.Val1061Phe
XM_011535119.1:c.3133G>T	XP_011533421.1:p.Val1045Phe
XM_011535120.1:c.2902G>T	XP_011533422.1:p.Val968Phe
XM_011535121.1:c.2803G>T	XP_011533423.1:p.Val935Phe
XM_011535122.1:c.1984G>T	XP_011533424.1:p.Val662Phe
XR_941601.1:n.3535G>T
XR_941602.1:n.3535G>T
XR_941603.1:n.3535G>T
XR_941604.1:n.3535G>T
NM_001330578.1:c.3082G>T	NP_001317507.1:p.Val1028Phe
NM_001330579.1:c.3064G>T	NP_001317508.1:p.Val1022Phe
XM_005266424.4:c.3220G>T	XP_005266481.1:p.Val1074Phe
XM_005266430.4:c.3316G>T	XP_005266487.1:p.Val1106Phe
XM_005266431.4:c.3280G>T	XP_005266488.1:p.Val1094Phe
XM_006719837.3:c.3220G>T	XP_006719900.1:p.Val1074Phe
XM_011535117.3:c.3220G>T	XP_011533419.1:p.Val1074Phe
XM_017020627.1:c.3220G>T	XP_016876116.1:p.Val1074Phe
NM_000053.4:c.3316G>T MANE Select	NP_000044.2:p.Val1106Phe
NM_001005918.3:c.2695G>T	NP_001005918.1:p.Val899Phe
NM_001330579.2:c.3064G>T	NP_001317508.1:p.Val1022Phe
NM_001243182.2:c.2983G>T	NP_001230111.1:p.Val995Phe
NM_001330578.2:c.3082G>T	NP_001317507.1:p.Val1028Phe