Canonical Allele Identifier: CA388030687

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518413C>A (hg19) ; chr13:g.51944277C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944277C>A , CM000675.2:g.51944277C>A	GRCh38
NC_000013.10:g.52518413C>A , CM000675.1:g.52518413C>A	GRCh37
NC_000013.9:g.51416414C>A	NCBI36
NG_008806.1:g.72218G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1723G>T	ENSP00000489512.2:n.*894-1723G>T
ENST00000673864.2:c.*1819G>T	ENSP00000501045.2:n.*1819G>T
ENST00000674147.2:c.2454G>T	ENSP00000500964.2:p.Met818Ile
ENST00000242839.10:c.3075G>T MANE Select	ENSP00000242839.5:p.Met1025Ile
ENST00000344297.9:c.2454G>T	ENSP00000342559.5:p.Met818Ile
ENST00000400366.6:c.2742G>T	ENSP00000383217.3:p.Met914Ile
ENST00000448424.7:c.2823G>T	ENSP00000416738.3:p.Met941Ile
ENST00000673772.1:c.2841G>T	ENSP00000501168.1:p.Met947Ile
ENST00000673867.1:n.3214G>T
ENST00000674126.1:n.3438G>T
ENST00000674147.1:c.2010G>T	ENSP00000500964.1:p.Met670Ile
ENST00000242839.8:c.3075G>T	ENSP00000242839.4:p.Met1025Ile
ENST00000344297.8:c.2454G>T	ENSP00000342559.5:p.Met818Ile
ENST00000400366.5:c.2742G>T	ENSP00000383217.3:p.Met914Ile
ENST00000400370.8:c.1785G>T	ENSP00000383221.3:p.Met595Ile
ENST00000418097.7:c.2880G>T	ENSP00000393343.2:p.Met960Ile
ENST00000448424.6:c.2841G>T	ENSP00000416738.2:p.Met947Ile
ENST00000466629.1:n.295G>T
ENST00000634296.1:c.1022-1723G>T
ENST00000634308.1:c.*176G>T	ENSP00000489234.1:n.*176G>T
ENST00000634620.1:n.3819G>T
ENST00000634810.1:n.2420G>T
ENST00000634844.1:c.2931G>T	ENSP00000489398.1:p.Met977Ile
ENST00000635406.1:n.421G>T
NM_000053.3:c.3075G>T	NP_000044.2:p.Met1025Ile
NM_001005918.2:c.2454G>T	NP_001005918.1:p.Met818Ile
NM_001243182.1:c.2742G>T	NP_001230111.1:p.Met914Ile
XM_005266423.2:c.2979G>T	XP_005266480.1:p.Met993Ile
XM_005266424.3:c.2979G>T	XP_005266481.1:p.Met993Ile
XM_005266427.2:c.2841G>T	XP_005266484.1:p.Met947Ile
XM_005266428.1:c.2823G>T	XP_005266485.1:p.Met941Ile
XM_005266430.3:c.3075G>T	XP_005266487.1:p.Met1025Ile
XM_005266431.2:c.3039G>T	XP_005266488.1:p.Met1013Ile
XM_005266432.2:c.2589G>T	XP_005266489.1:p.Met863Ile
XM_006719837.2:c.2979G>T	XP_006719900.1:p.Met993Ile
XM_006719838.1:c.891G>T	XP_006719901.1:p.Met297Ile
XM_006719839.1:c.877-1723G>T	XP_006719902.1:n.877-1723G>T
XM_011535117.1:c.2979G>T	XP_011533419.1:p.Met993Ile
XM_011535118.1:c.2940G>T	XP_011533420.1:p.Met980Ile
XM_011535119.1:c.3061-1723G>T	XP_011533421.1:n.3061-1723G>T
XM_011535120.1:c.2661G>T	XP_011533422.1:p.Met887Ile
XM_011535121.1:c.2731-1723G>T	XP_011533423.1:n.2731-1723G>T
XM_011535122.1:c.1743G>T	XP_011533424.1:p.Met581Ile
XR_941601.1:n.3294G>T
XR_941602.1:n.3294G>T
XR_941603.1:n.3294G>T
XR_941604.1:n.3294G>T
NM_001330578.1:c.2841G>T	NP_001317507.1:p.Met947Ile
NM_001330579.1:c.2823G>T	NP_001317508.1:p.Met941Ile
XM_005266424.4:c.2979G>T	XP_005266481.1:p.Met993Ile
XM_005266430.4:c.3075G>T	XP_005266487.1:p.Met1025Ile
XM_005266431.4:c.3039G>T	XP_005266488.1:p.Met1013Ile
XM_006719837.3:c.2979G>T	XP_006719900.1:p.Met993Ile
XM_011535117.3:c.2979G>T	XP_011533419.1:p.Met993Ile
XM_017020627.1:c.2979G>T	XP_016876116.1:p.Met993Ile
NM_000053.4:c.3075G>T MANE Select	NP_000044.2:p.Met1025Ile
NM_001005918.3:c.2454G>T	NP_001005918.1:p.Met818Ile
NM_001330579.2:c.2823G>T	NP_001317508.1:p.Met941Ile
NM_001243182.2:c.2742G>T	NP_001230111.1:p.Met914Ile
NM_001330578.2:c.2841G>T	NP_001317507.1:p.Met947Ile