Canonical Allele Identifier: CA483894962

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520528G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946392G>T , CM000675.2:g.51946392G>T	GRCh38
NC_000013.10:g.52520528G>T , CM000675.1:g.52520528G>T	GRCh37
NC_000013.9:g.51418529G>T	NCBI36
NG_008806.1:g.70103C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*785C>A	ENSP00000489512.2:n.*785C>A
ENST00000673864.2:c.*1696C>A	ENSP00000501045.2:n.*1696C>A
ENST00000674147.2:c.2331C>A	ENSP00000500964.2:p.Pro777=
ENST00000242839.10:c.2952C>A MANE Select	ENSP00000242839.5:p.Pro984=
ENST00000344297.9:c.2331C>A	ENSP00000342559.5:p.Pro777=
ENST00000400366.6:c.2619C>A	ENSP00000383217.3:p.Pro873=
ENST00000448424.7:c.2700C>A	ENSP00000416738.3:p.Pro900=
ENST00000673772.1:c.2718C>A	ENSP00000501168.1:p.Pro906=
ENST00000673867.1:n.1099C>A
ENST00000674126.1:n.3315C>A
ENST00000674147.1:c.1887C>A	ENSP00000500964.1:p.Pro629=
ENST00000242839.8:c.2952C>A	ENSP00000242839.4:p.Pro984=
ENST00000344297.8:c.2331C>A	ENSP00000342559.5:p.Pro777=
ENST00000400366.5:c.2619C>A	ENSP00000383217.3:p.Pro873=
ENST00000400370.8:c.1662C>A	ENSP00000383221.3:p.Pro554=
ENST00000418097.7:c.2866-2101C>A	ENSP00000393343.2:n.2866-2101C>A
ENST00000448424.6:c.2718C>A	ENSP00000416738.2:p.Pro906=
ENST00000466629.1:n.172C>A
ENST00000634296.1:c.913C>A
ENST00000634308.1:c.*53C>A	ENSP00000489234.1:n.*53C>A
ENST00000634620.1:n.3696C>A
ENST00000634810.1:n.2297C>A
ENST00000634844.1:c.2808C>A	ENSP00000489398.1:p.Pro936=
ENST00000635406.1:n.298C>A
NM_000053.3:c.2952C>A	NP_000044.2:p.Pro984=
NM_001005918.2:c.2331C>A	NP_001005918.1:p.Pro777=
NM_001243182.1:c.2619C>A	NP_001230111.1:p.Pro873=
XM_005266423.2:c.2856C>A	XP_005266480.1:p.Pro952=
XM_005266424.3:c.2856C>A	XP_005266481.1:p.Pro952=
XM_005266427.2:c.2718C>A	XP_005266484.1:p.Pro906=
XM_005266428.1:c.2700C>A	XP_005266485.1:p.Pro900=
XM_005266430.3:c.2952C>A	XP_005266487.1:p.Pro984=
XM_005266431.2:c.2916C>A	XP_005266488.1:p.Pro972=
XM_005266432.2:c.2466C>A	XP_005266489.1:p.Pro822=
XM_006719837.2:c.2856C>A	XP_006719900.1:p.Pro952=
XM_006719838.1:c.768C>A	XP_006719901.1:p.Pro256=
XM_006719839.1:c.768C>A	XP_006719902.1:p.Pro256=
XM_011535117.1:c.2856C>A	XP_011533419.1:p.Pro952=
XM_011535118.1:c.2817C>A	XP_011533420.1:p.Pro939=
XM_011535119.1:c.2952C>A	XP_011533421.1:p.Pro984=
XM_011535120.1:c.2538C>A	XP_011533422.1:p.Pro846=
XM_011535121.1:c.2730+3615C>A	XP_011533423.1:n.2730+3615C>A
XM_011535122.1:c.1620C>A	XP_011533424.1:p.Pro540=
XR_941601.1:n.3171C>A
XR_941602.1:n.3171C>A
XR_941603.1:n.3171C>A
XR_941604.1:n.3171C>A
NM_001330578.1:c.2718C>A	NP_001317507.1:p.Pro906=
NM_001330579.1:c.2700C>A	NP_001317508.1:p.Pro900=
XM_005266424.4:c.2856C>A	XP_005266481.1:p.Pro952=
XM_005266430.4:c.2952C>A	XP_005266487.1:p.Pro984=
XM_005266431.4:c.2916C>A	XP_005266488.1:p.Pro972=
XM_006719837.3:c.2856C>A	XP_006719900.1:p.Pro952=
XM_011535117.3:c.2856C>A	XP_011533419.1:p.Pro952=
XM_017020627.1:c.2856C>A	XP_016876116.1:p.Pro952=
NM_000053.4:c.2952C>A MANE Select	NP_000044.2:p.Pro984=
NM_001005918.3:c.2331C>A	NP_001005918.1:p.Pro777=
NM_001330579.2:c.2700C>A	NP_001317508.1:p.Pro900=
NM_001243182.2:c.2619C>A	NP_001230111.1:p.Pro873=
NM_001330578.2:c.2718C>A	NP_001317507.1:p.Pro906=