Canonical Allele Identifier: CA483896094

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51958350-C-A
• MyVariant Identifiers: chr13:g.52532486C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51958350C>A , CM000675.2:g.51958350C>A	GRCh38
NC_000013.10:g.52532486C>A , CM000675.1:g.52532486C>A	GRCh37
NC_000013.9:g.51430487C>A	NCBI36
NG_008806.1:g.58145G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*149G>T	ENSP00000489512.2:n.*149G>T
ENST00000673864.2:c.*1060G>T	ENSP00000501045.2:n.*1060G>T
ENST00000674147.2:c.1870-743G>T	ENSP00000500964.2:n.1870-743G>T
ENST00000242839.10:c.2316G>T MANE Select	ENSP00000242839.5:p.Val772=
ENST00000344297.9:c.1870-743G>T	ENSP00000342559.5:n.1870-743G>T
ENST00000400366.6:c.1983G>T	ENSP00000383217.3:p.Val661=
ENST00000448424.7:c.2064G>T	ENSP00000416738.3:p.Val688=
ENST00000673772.1:c.2122-743G>T	ENSP00000501168.1:n.2122-743G>T
ENST00000674147.1:c.1426-743G>T	ENSP00000500964.1:n.1426-743G>T
ENST00000242839.8:c.2316G>T	ENSP00000242839.4:p.Val772=
ENST00000344297.8:c.1870-743G>T	ENSP00000342559.5:n.1870-743G>T
ENST00000400366.5:c.1983G>T	ENSP00000383217.3:p.Val661=
ENST00000400370.8:c.1286-8189G>T	ENSP00000383221.3:n.1286-8189G>T
ENST00000418097.7:c.2316G>T	ENSP00000393343.2:p.Val772=
ENST00000448424.6:c.2122-743G>T	ENSP00000416738.2:n.2122-743G>T
ENST00000634296.1:c.277G>T
ENST00000634308.1:c.2122-743G>T	ENSP00000489234.1:n.2122-743G>T
ENST00000634620.1:n.2411G>T
ENST00000634810.1:n.1661G>T
ENST00000634844.1:c.2172G>T	ENSP00000489398.1:p.Val724=
ENST00000635406.1:n.212-11872G>T
NM_000053.3:c.2316G>T	NP_000044.2:p.Val772=
NM_001005918.2:c.1870-743G>T	NP_001005918.1:n.1870-743G>T
NM_001243182.1:c.1983G>T	NP_001230111.1:p.Val661=
XM_005266423.2:c.2220G>T	XP_005266480.1:p.Val740=
XM_005266424.3:c.2220G>T	XP_005266481.1:p.Val740=
XM_005266427.2:c.2122-743G>T	XP_005266484.1:n.2122-743G>T
XM_005266428.1:c.2064G>T	XP_005266485.1:p.Val688=
XM_005266430.3:c.2316G>T	XP_005266487.1:p.Val772=
XM_005266431.2:c.2280G>T	XP_005266488.1:p.Val760=
XM_005266432.2:c.1870-743G>T	XP_005266489.1:n.1870-743G>T
XM_006719837.2:c.2220G>T	XP_006719900.1:p.Val740=
XM_006719838.1:c.132G>T	XP_006719901.1:p.Val44=
XM_006719839.1:c.132G>T	XP_006719902.1:p.Val44=
XM_011535117.1:c.2220G>T	XP_011533419.1:p.Val740=
XM_011535118.1:c.2316G>T	XP_011533420.1:p.Val772=
XM_011535119.1:c.2316G>T	XP_011533421.1:p.Val772=
XM_011535120.1:c.1902G>T	XP_011533422.1:p.Val634=
XM_011535121.1:c.2316G>T	XP_011533423.1:p.Val772=
XM_011535122.1:c.984G>T	XP_011533424.1:p.Val328=
XR_941601.1:n.2535G>T
XR_941602.1:n.2535G>T
XR_941603.1:n.2535G>T
XR_941604.1:n.2535G>T
NM_001330578.1:c.2122-743G>T	NP_001317507.1:n.2122-743G>T
NM_001330579.1:c.2064G>T	NP_001317508.1:p.Val688=
XM_005266424.4:c.2220G>T	XP_005266481.1:p.Val740=
XM_005266430.4:c.2316G>T	XP_005266487.1:p.Val772=
XM_005266431.4:c.2280G>T	XP_005266488.1:p.Val760=
XM_006719837.3:c.2220G>T	XP_006719900.1:p.Val740=
XM_011535117.3:c.2220G>T	XP_011533419.1:p.Val740=
XM_017020627.1:c.2220G>T	XP_016876116.1:p.Val740=
NM_000053.4:c.2316G>T MANE Select	NP_000044.2:p.Val772=
NM_001005918.3:c.1870-743G>T	NP_001005918.1:n.1870-743G>T
NM_001330579.2:c.2064G>T	NP_001317508.1:p.Val688=
NM_001243182.2:c.1983G>T	NP_001230111.1:p.Val661=
NM_001330578.2:c.2122-743G>T	NP_001317507.1:n.2122-743G>T