Canonical Allele Identifier: CA388030378

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518376T>A (hg19) ; chr13:g.51944240T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944240T>A , CM000675.2:g.51944240T>A	GRCh38
NC_000013.10:g.52518376T>A , CM000675.1:g.52518376T>A	GRCh37
NC_000013.9:g.51416377T>A	NCBI36
NG_008806.1:g.72255A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1686A>T	ENSP00000489512.2:n.*894-1686A>T
ENST00000673864.2:c.*1856A>T	ENSP00000501045.2:n.*1856A>T
ENST00000674147.2:c.2491A>T	ENSP00000500964.2:p.Arg831Trp
ENST00000242839.10:c.3112A>T MANE Select	ENSP00000242839.5:p.Arg1038Trp
ENST00000344297.9:c.2491A>T	ENSP00000342559.5:p.Arg831Trp
ENST00000400366.6:c.2779A>T	ENSP00000383217.3:p.Arg927Trp
ENST00000448424.7:c.2860A>T	ENSP00000416738.3:p.Arg954Trp
ENST00000673772.1:c.2878A>T	ENSP00000501168.1:p.Arg960Trp
ENST00000673867.1:n.3251A>T
ENST00000674126.1:n.3475A>T
ENST00000674147.1:c.2047A>T	ENSP00000500964.1:p.Arg683Trp
ENST00000242839.8:c.3112A>T	ENSP00000242839.4:p.Arg1038Trp
ENST00000344297.8:c.2491A>T	ENSP00000342559.5:p.Arg831Trp
ENST00000400366.5:c.2779A>T	ENSP00000383217.3:p.Arg927Trp
ENST00000400370.8:c.1822A>T	ENSP00000383221.3:p.Arg608Trp
ENST00000418097.7:c.2917A>T	ENSP00000393343.2:p.Arg973Trp
ENST00000448424.6:c.2878A>T	ENSP00000416738.2:p.Arg960Trp
ENST00000466629.1:n.332A>T
ENST00000634296.1:c.1022-1686A>T
ENST00000634308.1:c.*213A>T	ENSP00000489234.1:n.*213A>T
ENST00000634620.1:n.3856A>T
ENST00000634810.1:n.2457A>T
ENST00000634844.1:c.2968A>T	ENSP00000489398.1:p.Arg990Trp
ENST00000635406.1:n.458A>T
NM_000053.3:c.3112A>T	NP_000044.2:p.Arg1038Trp
NM_001005918.2:c.2491A>T	NP_001005918.1:p.Arg831Trp
NM_001243182.1:c.2779A>T	NP_001230111.1:p.Arg927Trp
XM_005266423.2:c.3016A>T	XP_005266480.1:p.Arg1006Trp
XM_005266424.3:c.3016A>T	XP_005266481.1:p.Arg1006Trp
XM_005266427.2:c.2878A>T	XP_005266484.1:p.Arg960Trp
XM_005266428.1:c.2860A>T	XP_005266485.1:p.Arg954Trp
XM_005266430.3:c.3112A>T	XP_005266487.1:p.Arg1038Trp
XM_005266431.2:c.3076A>T	XP_005266488.1:p.Arg1026Trp
XM_005266432.2:c.2626A>T	XP_005266489.1:p.Arg876Trp
XM_006719837.2:c.3016A>T	XP_006719900.1:p.Arg1006Trp
XM_006719838.1:c.928A>T	XP_006719901.1:p.Arg310Trp
XM_006719839.1:c.877-1686A>T	XP_006719902.1:n.877-1686A>T
XM_011535117.1:c.3016A>T	XP_011533419.1:p.Arg1006Trp
XM_011535118.1:c.2977A>T	XP_011533420.1:p.Arg993Trp
XM_011535119.1:c.3061-1686A>T	XP_011533421.1:n.3061-1686A>T
XM_011535120.1:c.2698A>T	XP_011533422.1:p.Arg900Trp
XM_011535121.1:c.2731-1686A>T	XP_011533423.1:n.2731-1686A>T
XM_011535122.1:c.1780A>T	XP_011533424.1:p.Arg594Trp
XR_941601.1:n.3331A>T
XR_941602.1:n.3331A>T
XR_941603.1:n.3331A>T
XR_941604.1:n.3331A>T
NM_001330578.1:c.2878A>T	NP_001317507.1:p.Arg960Trp
NM_001330579.1:c.2860A>T	NP_001317508.1:p.Arg954Trp
XM_005266424.4:c.3016A>T	XP_005266481.1:p.Arg1006Trp
XM_005266430.4:c.3112A>T	XP_005266487.1:p.Arg1038Trp
XM_005266431.4:c.3076A>T	XP_005266488.1:p.Arg1026Trp
XM_006719837.3:c.3016A>T	XP_006719900.1:p.Arg1006Trp
XM_011535117.3:c.3016A>T	XP_011533419.1:p.Arg1006Trp
XM_017020627.1:c.3016A>T	XP_016876116.1:p.Arg1006Trp
NM_000053.4:c.3112A>T MANE Select	NP_000044.2:p.Arg1038Trp
NM_001005918.3:c.2491A>T	NP_001005918.1:p.Arg831Trp
NM_001330579.2:c.2860A>T	NP_001317508.1:p.Arg954Trp
NM_001243182.2:c.2779A>T	NP_001230111.1:p.Arg927Trp
NM_001330578.2:c.2878A>T	NP_001317507.1:p.Arg960Trp