Canonical Allele Identifier: CA388020750

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51937278-G-C
• MyVariant Identifiers: chr13:g.52511414G>C (hg19) ; chr13:g.51937278G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937278G>C , CM000675.2:g.51937278G>C	GRCh38
NC_000013.10:g.52511414G>C , CM000675.1:g.52511414G>C	GRCh37
NC_000013.9:g.51409415G>C	NCBI36
NG_008806.1:g.79217C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1669C>G	ENSP00000489512.2:n.*1669C>G
ENST00000673864.2:c.*2763C>G	ENSP00000501045.2:n.*2763C>G
ENST00000674147.2:c.3398C>G	ENSP00000500964.2:p.Ala1133Gly
ENST00000242839.10:c.4019C>G MANE Select	ENSP00000242839.5:p.Ala1340Gly
ENST00000344297.9:c.3398C>G	ENSP00000342559.5:p.Ala1133Gly
ENST00000400366.6:c.3686C>G	ENSP00000383217.3:p.Ala1229Gly
ENST00000448424.7:c.3767C>G	ENSP00000416738.3:p.Ala1256Gly
ENST00000673696.1:n.1342C>G
ENST00000673772.1:c.3785C>G	ENSP00000501168.1:p.Ala1262Gly
ENST00000673867.1:n.4158C>G
ENST00000673923.1:n.885C>G
ENST00000674147.1:c.2954C>G	ENSP00000500964.1:p.Ala985Gly
ENST00000242839.8:c.4019C>G	ENSP00000242839.4:p.Ala1340Gly
ENST00000344297.8:c.3398C>G	ENSP00000342559.5:p.Ala1133Gly
ENST00000400366.5:c.3686C>G	ENSP00000383217.3:p.Ala1229Gly
ENST00000400370.8:c.2729C>G	ENSP00000383221.3:p.Ala910Gly
ENST00000418097.7:c.3824C>G	ENSP00000393343.2:p.Ala1275Gly
ENST00000448424.6:c.3785C>G	ENSP00000416738.2:p.Ala1262Gly
ENST00000634296.1:c.1797C>G
ENST00000634308.1:c.*1120C>G	ENSP00000489234.1:n.*1120C>G
ENST00000634620.1:n.4763C>G
ENST00000634810.1:n.3364C>G
ENST00000634844.1:c.3875C>G	ENSP00000489398.1:p.Ala1292Gly
NM_000053.3:c.4019C>G	NP_000044.2:p.Ala1340Gly
NM_001005918.2:c.3398C>G	NP_001005918.1:p.Ala1133Gly
NM_001243182.1:c.3686C>G	NP_001230111.1:p.Ala1229Gly
XM_005266423.2:c.3923C>G	XP_005266480.1:p.Ala1308Gly
XM_005266424.3:c.3923C>G	XP_005266481.1:p.Ala1308Gly
XM_005266427.2:c.3785C>G	XP_005266484.1:p.Ala1262Gly
XM_005266428.1:c.3767C>G	XP_005266485.1:p.Ala1256Gly
XM_005266430.3:c.4019C>G	XP_005266487.1:p.Ala1340Gly
XM_005266431.2:c.3983C>G	XP_005266488.1:p.Ala1328Gly
XM_005266432.2:c.3533C>G	XP_005266489.1:p.Ala1178Gly
XM_006719837.2:c.3923C>G	XP_006719900.1:p.Ala1308Gly
XM_006719838.1:c.1835C>G	XP_006719901.1:p.Ala612Gly
XM_006719839.1:c.1652C>G	XP_006719902.1:p.Ala551Gly
XM_011535117.1:c.3923C>G	XP_011533419.1:p.Ala1308Gly
XM_011535118.1:c.3884C>G	XP_011533420.1:p.Ala1295Gly
XM_011535119.1:c.3836C>G	XP_011533421.1:p.Ala1279Gly
XM_011535120.1:c.3605C>G	XP_011533422.1:p.Ala1202Gly
XM_011535121.1:c.3506C>G	XP_011533423.1:p.Ala1169Gly
XM_011535122.1:c.2687C>G	XP_011533424.1:p.Ala896Gly
XR_941601.1:n.4238C>G
XR_941602.1:n.4238C>G
XR_941603.1:n.4238C>G
XR_941604.1:n.4238C>G
NM_001330578.1:c.3785C>G	NP_001317507.1:p.Ala1262Gly
NM_001330579.1:c.3767C>G	NP_001317508.1:p.Ala1256Gly
XM_005266424.4:c.3923C>G	XP_005266481.1:p.Ala1308Gly
XM_005266430.4:c.4019C>G	XP_005266487.1:p.Ala1340Gly
XM_005266431.4:c.3983C>G	XP_005266488.1:p.Ala1328Gly
XM_006719837.3:c.3923C>G	XP_006719900.1:p.Ala1308Gly
XM_011535117.3:c.3923C>G	XP_011533419.1:p.Ala1308Gly
XM_017020627.1:c.3923C>G	XP_016876116.1:p.Ala1308Gly
NM_000053.4:c.4019C>G MANE Select	NP_000044.2:p.Ala1340Gly
NM_001005918.3:c.3398C>G	NP_001005918.1:p.Ala1133Gly
NM_001330579.2:c.3767C>G	NP_001317508.1:p.Ala1256Gly
NM_001243182.2:c.3686C>G	NP_001230111.1:p.Ala1229Gly
NM_001330578.2:c.3785C>G	NP_001317507.1:p.Ala1262Gly