Canonical Allele Identifier: CA388020464

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52532458G>C (hg19) ; chr13:g.51958322G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51958322G>C , CM000675.2:g.51958322G>C	GRCh38
NC_000013.10:g.52532458G>C , CM000675.1:g.52532458G>C	GRCh37
NC_000013.9:g.51430459G>C	NCBI36
NG_008806.1:g.58173C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*177C>G	ENSP00000489512.2:n.*177C>G
ENST00000673864.2:c.*1088C>G	ENSP00000501045.2:n.*1088C>G
ENST00000674147.2:c.1870-715C>G	ENSP00000500964.2:n.1870-715C>G
ENST00000242839.10:c.2344C>G MANE Select	ENSP00000242839.5:p.His782Asp
ENST00000344297.9:c.1870-715C>G	ENSP00000342559.5:n.1870-715C>G
ENST00000400366.6:c.2011C>G	ENSP00000383217.3:p.His671Asp
ENST00000448424.7:c.2092C>G	ENSP00000416738.3:p.His698Asp
ENST00000673772.1:c.2122-715C>G	ENSP00000501168.1:n.2122-715C>G
ENST00000674147.1:c.1426-715C>G	ENSP00000500964.1:n.1426-715C>G
ENST00000242839.8:c.2344C>G	ENSP00000242839.4:p.His782Asp
ENST00000344297.8:c.1870-715C>G	ENSP00000342559.5:n.1870-715C>G
ENST00000400366.5:c.2011C>G	ENSP00000383217.3:p.His671Asp
ENST00000400370.8:c.1286-8161C>G	ENSP00000383221.3:n.1286-8161C>G
ENST00000418097.7:c.2344C>G	ENSP00000393343.2:p.His782Asp
ENST00000448424.6:c.2122-715C>G	ENSP00000416738.2:n.2122-715C>G
ENST00000634296.1:c.305C>G
ENST00000634308.1:c.2122-715C>G	ENSP00000489234.1:n.2122-715C>G
ENST00000634620.1:n.2439C>G
ENST00000634810.1:n.1689C>G
ENST00000634844.1:c.2200C>G	ENSP00000489398.1:p.His734Asp
ENST00000635406.1:n.212-11844C>G
NM_000053.3:c.2344C>G	NP_000044.2:p.His782Asp
NM_001005918.2:c.1870-715C>G	NP_001005918.1:n.1870-715C>G
NM_001243182.1:c.2011C>G	NP_001230111.1:p.His671Asp
XM_005266423.2:c.2248C>G	XP_005266480.1:p.His750Asp
XM_005266424.3:c.2248C>G	XP_005266481.1:p.His750Asp
XM_005266427.2:c.2122-715C>G	XP_005266484.1:n.2122-715C>G
XM_005266428.1:c.2092C>G	XP_005266485.1:p.His698Asp
XM_005266430.3:c.2344C>G	XP_005266487.1:p.His782Asp
XM_005266431.2:c.2308C>G	XP_005266488.1:p.His770Asp
XM_005266432.2:c.1870-715C>G	XP_005266489.1:n.1870-715C>G
XM_006719837.2:c.2248C>G	XP_006719900.1:p.His750Asp
XM_006719838.1:c.160C>G	XP_006719901.1:p.His54Asp
XM_006719839.1:c.160C>G	XP_006719902.1:p.His54Asp
XM_011535117.1:c.2248C>G	XP_011533419.1:p.His750Asp
XM_011535118.1:c.2344C>G	XP_011533420.1:p.His782Asp
XM_011535119.1:c.2344C>G	XP_011533421.1:p.His782Asp
XM_011535120.1:c.1930C>G	XP_011533422.1:p.His644Asp
XM_011535121.1:c.2344C>G	XP_011533423.1:p.His782Asp
XM_011535122.1:c.1012C>G	XP_011533424.1:p.His338Asp
XR_941601.1:n.2563C>G
XR_941602.1:n.2563C>G
XR_941603.1:n.2563C>G
XR_941604.1:n.2563C>G
NM_001330578.1:c.2122-715C>G	NP_001317507.1:n.2122-715C>G
NM_001330579.1:c.2092C>G	NP_001317508.1:p.His698Asp
XM_005266424.4:c.2248C>G	XP_005266481.1:p.His750Asp
XM_005266430.4:c.2344C>G	XP_005266487.1:p.His782Asp
XM_005266431.4:c.2308C>G	XP_005266488.1:p.His770Asp
XM_006719837.3:c.2248C>G	XP_006719900.1:p.His750Asp
XM_011535117.3:c.2248C>G	XP_011533419.1:p.His750Asp
XM_017020627.1:c.2248C>G	XP_016876116.1:p.His750Asp
NM_000053.4:c.2344C>G MANE Select	NP_000044.2:p.His782Asp
NM_001005918.3:c.1870-715C>G	NP_001005918.1:n.1870-715C>G
NM_001330579.2:c.2092C>G	NP_001317508.1:p.His698Asp
NM_001243182.2:c.2011C>G	NP_001230111.1:p.His671Asp
NM_001330578.2:c.2122-715C>G	NP_001317507.1:n.2122-715C>G