Canonical Allele Identifier: CA388030438

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518385C>A (hg19) ; chr13:g.51944249C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944249C>A , CM000675.2:g.51944249C>A	GRCh38
NC_000013.10:g.52518385C>A , CM000675.1:g.52518385C>A	GRCh37
NC_000013.9:g.51416386C>A	NCBI36
NG_008806.1:g.72246G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1695G>T	ENSP00000489512.2:n.*894-1695G>T
ENST00000673864.2:c.*1847G>T	ENSP00000501045.2:n.*1847G>T
ENST00000674147.2:c.2482G>T	ENSP00000500964.2:p.Gly828Cys
ENST00000242839.10:c.3103G>T MANE Select	ENSP00000242839.5:p.Gly1035Cys
ENST00000344297.9:c.2482G>T	ENSP00000342559.5:p.Gly828Cys
ENST00000400366.6:c.2770G>T	ENSP00000383217.3:p.Gly924Cys
ENST00000448424.7:c.2851G>T	ENSP00000416738.3:p.Gly951Cys
ENST00000673772.1:c.2869G>T	ENSP00000501168.1:p.Gly957Cys
ENST00000673867.1:n.3242G>T
ENST00000674126.1:n.3466G>T
ENST00000674147.1:c.2038G>T	ENSP00000500964.1:p.Gly680Cys
ENST00000242839.8:c.3103G>T	ENSP00000242839.4:p.Gly1035Cys
ENST00000344297.8:c.2482G>T	ENSP00000342559.5:p.Gly828Cys
ENST00000400366.5:c.2770G>T	ENSP00000383217.3:p.Gly924Cys
ENST00000400370.8:c.1813G>T	ENSP00000383221.3:p.Gly605Cys
ENST00000418097.7:c.2908G>T	ENSP00000393343.2:p.Gly970Cys
ENST00000448424.6:c.2869G>T	ENSP00000416738.2:p.Gly957Cys
ENST00000466629.1:n.323G>T
ENST00000634296.1:c.1022-1695G>T
ENST00000634308.1:c.*204G>T	ENSP00000489234.1:n.*204G>T
ENST00000634620.1:n.3847G>T
ENST00000634810.1:n.2448G>T
ENST00000634844.1:c.2959G>T	ENSP00000489398.1:p.Gly987Cys
ENST00000635406.1:n.449G>T
NM_000053.3:c.3103G>T	NP_000044.2:p.Gly1035Cys
NM_001005918.2:c.2482G>T	NP_001005918.1:p.Gly828Cys
NM_001243182.1:c.2770G>T	NP_001230111.1:p.Gly924Cys
XM_005266423.2:c.3007G>T	XP_005266480.1:p.Gly1003Cys
XM_005266424.3:c.3007G>T	XP_005266481.1:p.Gly1003Cys
XM_005266427.2:c.2869G>T	XP_005266484.1:p.Gly957Cys
XM_005266428.1:c.2851G>T	XP_005266485.1:p.Gly951Cys
XM_005266430.3:c.3103G>T	XP_005266487.1:p.Gly1035Cys
XM_005266431.2:c.3067G>T	XP_005266488.1:p.Gly1023Cys
XM_005266432.2:c.2617G>T	XP_005266489.1:p.Gly873Cys
XM_006719837.2:c.3007G>T	XP_006719900.1:p.Gly1003Cys
XM_006719838.1:c.919G>T	XP_006719901.1:p.Gly307Cys
XM_006719839.1:c.877-1695G>T	XP_006719902.1:n.877-1695G>T
XM_011535117.1:c.3007G>T	XP_011533419.1:p.Gly1003Cys
XM_011535118.1:c.2968G>T	XP_011533420.1:p.Gly990Cys
XM_011535119.1:c.3061-1695G>T	XP_011533421.1:n.3061-1695G>T
XM_011535120.1:c.2689G>T	XP_011533422.1:p.Gly897Cys
XM_011535121.1:c.2731-1695G>T	XP_011533423.1:n.2731-1695G>T
XM_011535122.1:c.1771G>T	XP_011533424.1:p.Gly591Cys
XR_941601.1:n.3322G>T
XR_941602.1:n.3322G>T
XR_941603.1:n.3322G>T
XR_941604.1:n.3322G>T
NM_001330578.1:c.2869G>T	NP_001317507.1:p.Gly957Cys
NM_001330579.1:c.2851G>T	NP_001317508.1:p.Gly951Cys
XM_005266424.4:c.3007G>T	XP_005266481.1:p.Gly1003Cys
XM_005266430.4:c.3103G>T	XP_005266487.1:p.Gly1035Cys
XM_005266431.4:c.3067G>T	XP_005266488.1:p.Gly1023Cys
XM_006719837.3:c.3007G>T	XP_006719900.1:p.Gly1003Cys
XM_011535117.3:c.3007G>T	XP_011533419.1:p.Gly1003Cys
XM_017020627.1:c.3007G>T	XP_016876116.1:p.Gly1003Cys
NM_000053.4:c.3103G>T MANE Select	NP_000044.2:p.Gly1035Cys
NM_001005918.3:c.2482G>T	NP_001005918.1:p.Gly828Cys
NM_001330579.2:c.2851G>T	NP_001317508.1:p.Gly951Cys
NM_001243182.2:c.2770G>T	NP_001230111.1:p.Gly924Cys
NM_001330578.2:c.2869G>T	NP_001317507.1:p.Gly957Cys