Canonical Allele Identifier: CA388021210

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511513A>C (hg19) ; chr13:g.51937377A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937377A>C , CM000675.2:g.51937377A>C	GRCh38
NC_000013.10:g.52511513A>C , CM000675.1:g.52511513A>C	GRCh37
NC_000013.9:g.51409514A>C	NCBI36
NG_008806.1:g.79118T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1570T>G	ENSP00000489512.2:n.*1570T>G
ENST00000673864.2:c.*2664T>G	ENSP00000501045.2:n.*2664T>G
ENST00000674147.2:c.3299T>G	ENSP00000500964.2:p.Val1100Gly
ENST00000242839.10:c.3920T>G MANE Select	ENSP00000242839.5:p.Val1307Gly
ENST00000344297.9:c.3299T>G	ENSP00000342559.5:p.Val1100Gly
ENST00000400366.6:c.3587T>G	ENSP00000383217.3:p.Val1196Gly
ENST00000448424.7:c.3668T>G	ENSP00000416738.3:p.Val1223Gly
ENST00000673696.1:n.1243T>G
ENST00000673772.1:c.3686T>G	ENSP00000501168.1:p.Val1229Gly
ENST00000673867.1:n.4059T>G
ENST00000673923.1:n.786T>G
ENST00000674147.1:c.2855T>G	ENSP00000500964.1:p.Val952Gly
ENST00000242839.8:c.3920T>G	ENSP00000242839.4:p.Val1307Gly
ENST00000344297.8:c.3299T>G	ENSP00000342559.5:p.Val1100Gly
ENST00000400366.5:c.3587T>G	ENSP00000383217.3:p.Val1196Gly
ENST00000400370.8:c.2630T>G	ENSP00000383221.3:p.Val877Gly
ENST00000418097.7:c.3725T>G	ENSP00000393343.2:p.Val1242Gly
ENST00000448424.6:c.3686T>G	ENSP00000416738.2:p.Val1229Gly
ENST00000634296.1:c.1698T>G
ENST00000634308.1:c.*1021T>G	ENSP00000489234.1:n.*1021T>G
ENST00000634620.1:n.4664T>G
ENST00000634810.1:n.3265T>G
ENST00000634844.1:c.3776T>G	ENSP00000489398.1:p.Val1259Gly
NM_000053.3:c.3920T>G	NP_000044.2:p.Val1307Gly
NM_001005918.2:c.3299T>G	NP_001005918.1:p.Val1100Gly
NM_001243182.1:c.3587T>G	NP_001230111.1:p.Val1196Gly
XM_005266423.2:c.3824T>G	XP_005266480.1:p.Val1275Gly
XM_005266424.3:c.3824T>G	XP_005266481.1:p.Val1275Gly
XM_005266427.2:c.3686T>G	XP_005266484.1:p.Val1229Gly
XM_005266428.1:c.3668T>G	XP_005266485.1:p.Val1223Gly
XM_005266430.3:c.3920T>G	XP_005266487.1:p.Val1307Gly
XM_005266431.2:c.3884T>G	XP_005266488.1:p.Val1295Gly
XM_005266432.2:c.3434T>G	XP_005266489.1:p.Val1145Gly
XM_006719837.2:c.3824T>G	XP_006719900.1:p.Val1275Gly
XM_006719838.1:c.1736T>G	XP_006719901.1:p.Val579Gly
XM_006719839.1:c.1553T>G	XP_006719902.1:p.Val518Gly
XM_011535117.1:c.3824T>G	XP_011533419.1:p.Val1275Gly
XM_011535118.1:c.3785T>G	XP_011533420.1:p.Val1262Gly
XM_011535119.1:c.3737T>G	XP_011533421.1:p.Val1246Gly
XM_011535120.1:c.3506T>G	XP_011533422.1:p.Val1169Gly
XM_011535121.1:c.3407T>G	XP_011533423.1:p.Val1136Gly
XM_011535122.1:c.2588T>G	XP_011533424.1:p.Val863Gly
XR_941601.1:n.4139T>G
XR_941602.1:n.4139T>G
XR_941603.1:n.4139T>G
XR_941604.1:n.4139T>G
NM_001330578.1:c.3686T>G	NP_001317507.1:p.Val1229Gly
NM_001330579.1:c.3668T>G	NP_001317508.1:p.Val1223Gly
XM_005266424.4:c.3824T>G	XP_005266481.1:p.Val1275Gly
XM_005266430.4:c.3920T>G	XP_005266487.1:p.Val1307Gly
XM_005266431.4:c.3884T>G	XP_005266488.1:p.Val1295Gly
XM_006719837.3:c.3824T>G	XP_006719900.1:p.Val1275Gly
XM_011535117.3:c.3824T>G	XP_011533419.1:p.Val1275Gly
XM_017020627.1:c.3824T>G	XP_016876116.1:p.Val1275Gly
NM_000053.4:c.3920T>G MANE Select	NP_000044.2:p.Val1307Gly
NM_001005918.3:c.3299T>G	NP_001005918.1:p.Val1100Gly
NM_001330579.2:c.3668T>G	NP_001317508.1:p.Val1223Gly
NM_001243182.2:c.3587T>G	NP_001230111.1:p.Val1196Gly
NM_001330578.2:c.3686T>G	NP_001317507.1:p.Val1229Gly