Canonical Allele Identifier: CA388030048

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518318A>T (hg19) ; chr13:g.51944182A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944182A>T , CM000675.2:g.51944182A>T	GRCh38
NC_000013.10:g.52518318A>T , CM000675.1:g.52518318A>T	GRCh37
NC_000013.9:g.51416319A>T	NCBI36
NG_008806.1:g.72313T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1628T>A	ENSP00000489512.2:n.*894-1628T>A
ENST00000673864.2:c.*1914T>A	ENSP00000501045.2:n.*1914T>A
ENST00000674147.2:c.2549T>A	ENSP00000500964.2:p.Leu850Gln
ENST00000242839.10:c.3170T>A MANE Select	ENSP00000242839.5:p.Leu1057Gln
ENST00000344297.9:c.2549T>A	ENSP00000342559.5:p.Leu850Gln
ENST00000400366.6:c.2837T>A	ENSP00000383217.3:p.Leu946Gln
ENST00000448424.7:c.2918T>A	ENSP00000416738.3:p.Leu973Gln
ENST00000673772.1:c.2936T>A	ENSP00000501168.1:p.Leu979Gln
ENST00000673867.1:n.3309T>A
ENST00000674126.1:n.3533T>A
ENST00000674147.1:c.2105T>A	ENSP00000500964.1:p.Leu702Gln
ENST00000242839.8:c.3170T>A	ENSP00000242839.4:p.Leu1057Gln
ENST00000344297.8:c.2549T>A	ENSP00000342559.5:p.Leu850Gln
ENST00000400366.5:c.2837T>A	ENSP00000383217.3:p.Leu946Gln
ENST00000400370.8:c.1880T>A	ENSP00000383221.3:p.Leu627Gln
ENST00000418097.7:c.2975T>A	ENSP00000393343.2:p.Leu992Gln
ENST00000448424.6:c.2936T>A	ENSP00000416738.2:p.Leu979Gln
ENST00000466629.1:n.390T>A
ENST00000634296.1:c.1022-1628T>A
ENST00000634308.1:c.*271T>A	ENSP00000489234.1:n.*271T>A
ENST00000634620.1:n.3914T>A
ENST00000634810.1:n.2515T>A
ENST00000634844.1:c.3026T>A	ENSP00000489398.1:p.Leu1009Gln
NM_000053.3:c.3170T>A	NP_000044.2:p.Leu1057Gln
NM_001005918.2:c.2549T>A	NP_001005918.1:p.Leu850Gln
NM_001243182.1:c.2837T>A	NP_001230111.1:p.Leu946Gln
XM_005266423.2:c.3074T>A	XP_005266480.1:p.Leu1025Gln
XM_005266424.3:c.3074T>A	XP_005266481.1:p.Leu1025Gln
XM_005266427.2:c.2936T>A	XP_005266484.1:p.Leu979Gln
XM_005266428.1:c.2918T>A	XP_005266485.1:p.Leu973Gln
XM_005266430.3:c.3170T>A	XP_005266487.1:p.Leu1057Gln
XM_005266431.2:c.3134T>A	XP_005266488.1:p.Leu1045Gln
XM_005266432.2:c.2684T>A	XP_005266489.1:p.Leu895Gln
XM_006719837.2:c.3074T>A	XP_006719900.1:p.Leu1025Gln
XM_006719838.1:c.986T>A	XP_006719901.1:p.Leu329Gln
XM_006719839.1:c.877-1628T>A	XP_006719902.1:n.877-1628T>A
XM_011535117.1:c.3074T>A	XP_011533419.1:p.Leu1025Gln
XM_011535118.1:c.3035T>A	XP_011533420.1:p.Leu1012Gln
XM_011535119.1:c.3061-1628T>A	XP_011533421.1:n.3061-1628T>A
XM_011535120.1:c.2756T>A	XP_011533422.1:p.Leu919Gln
XM_011535121.1:c.2731-1628T>A	XP_011533423.1:n.2731-1628T>A
XM_011535122.1:c.1838T>A	XP_011533424.1:p.Leu613Gln
XR_941601.1:n.3389T>A
XR_941602.1:n.3389T>A
XR_941603.1:n.3389T>A
XR_941604.1:n.3389T>A
NM_001330578.1:c.2936T>A	NP_001317507.1:p.Leu979Gln
NM_001330579.1:c.2918T>A	NP_001317508.1:p.Leu973Gln
XM_005266424.4:c.3074T>A	XP_005266481.1:p.Leu1025Gln
XM_005266430.4:c.3170T>A	XP_005266487.1:p.Leu1057Gln
XM_005266431.4:c.3134T>A	XP_005266488.1:p.Leu1045Gln
XM_006719837.3:c.3074T>A	XP_006719900.1:p.Leu1025Gln
XM_011535117.3:c.3074T>A	XP_011533419.1:p.Leu1025Gln
XM_017020627.1:c.3074T>A	XP_016876116.1:p.Leu1025Gln
NM_000053.4:c.3170T>A MANE Select	NP_000044.2:p.Leu1057Gln
NM_001005918.3:c.2549T>A	NP_001005918.1:p.Leu850Gln
NM_001330579.2:c.2918T>A	NP_001317508.1:p.Leu973Gln
NM_001243182.2:c.2837T>A	NP_001230111.1:p.Leu946Gln
NM_001330578.2:c.2936T>A	NP_001317507.1:p.Leu979Gln