Canonical Allele Identifier: CA388030244

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518357A>T (hg19) ; chr13:g.51944221A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944221A>T , CM000675.2:g.51944221A>T	GRCh38
NC_000013.10:g.52518357A>T , CM000675.1:g.52518357A>T	GRCh37
NC_000013.9:g.51416358A>T	NCBI36
NG_008806.1:g.72274T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1667T>A	ENSP00000489512.2:n.*894-1667T>A
ENST00000673864.2:c.*1875T>A	ENSP00000501045.2:n.*1875T>A
ENST00000674147.2:c.2510T>A	ENSP00000500964.2:p.Leu837Gln
ENST00000242839.10:c.3131T>A MANE Select	ENSP00000242839.5:p.Leu1044Gln
ENST00000344297.9:c.2510T>A	ENSP00000342559.5:p.Leu837Gln
ENST00000400366.6:c.2798T>A	ENSP00000383217.3:p.Leu933Gln
ENST00000448424.7:c.2879T>A	ENSP00000416738.3:p.Leu960Gln
ENST00000673772.1:c.2897T>A	ENSP00000501168.1:p.Leu966Gln
ENST00000673867.1:n.3270T>A
ENST00000674126.1:n.3494T>A
ENST00000674147.1:c.2066T>A	ENSP00000500964.1:p.Leu689Gln
ENST00000242839.8:c.3131T>A	ENSP00000242839.4:p.Leu1044Gln
ENST00000344297.8:c.2510T>A	ENSP00000342559.5:p.Leu837Gln
ENST00000400366.5:c.2798T>A	ENSP00000383217.3:p.Leu933Gln
ENST00000400370.8:c.1841T>A	ENSP00000383221.3:p.Leu614Gln
ENST00000418097.7:c.2936T>A	ENSP00000393343.2:p.Leu979Gln
ENST00000448424.6:c.2897T>A	ENSP00000416738.2:p.Leu966Gln
ENST00000466629.1:n.351T>A
ENST00000634296.1:c.1022-1667T>A
ENST00000634308.1:c.*232T>A	ENSP00000489234.1:n.*232T>A
ENST00000634620.1:n.3875T>A
ENST00000634810.1:n.2476T>A
ENST00000634844.1:c.2987T>A	ENSP00000489398.1:p.Leu996Gln
ENST00000635406.1:n.477T>A
NM_000053.3:c.3131T>A	NP_000044.2:p.Leu1044Gln
NM_001005918.2:c.2510T>A	NP_001005918.1:p.Leu837Gln
NM_001243182.1:c.2798T>A	NP_001230111.1:p.Leu933Gln
XM_005266423.2:c.3035T>A	XP_005266480.1:p.Leu1012Gln
XM_005266424.3:c.3035T>A	XP_005266481.1:p.Leu1012Gln
XM_005266427.2:c.2897T>A	XP_005266484.1:p.Leu966Gln
XM_005266428.1:c.2879T>A	XP_005266485.1:p.Leu960Gln
XM_005266430.3:c.3131T>A	XP_005266487.1:p.Leu1044Gln
XM_005266431.2:c.3095T>A	XP_005266488.1:p.Leu1032Gln
XM_005266432.2:c.2645T>A	XP_005266489.1:p.Leu882Gln
XM_006719837.2:c.3035T>A	XP_006719900.1:p.Leu1012Gln
XM_006719838.1:c.947T>A	XP_006719901.1:p.Leu316Gln
XM_006719839.1:c.877-1667T>A	XP_006719902.1:n.877-1667T>A
XM_011535117.1:c.3035T>A	XP_011533419.1:p.Leu1012Gln
XM_011535118.1:c.2996T>A	XP_011533420.1:p.Leu999Gln
XM_011535119.1:c.3061-1667T>A	XP_011533421.1:n.3061-1667T>A
XM_011535120.1:c.2717T>A	XP_011533422.1:p.Leu906Gln
XM_011535121.1:c.2731-1667T>A	XP_011533423.1:n.2731-1667T>A
XM_011535122.1:c.1799T>A	XP_011533424.1:p.Leu600Gln
XR_941601.1:n.3350T>A
XR_941602.1:n.3350T>A
XR_941603.1:n.3350T>A
XR_941604.1:n.3350T>A
NM_001330578.1:c.2897T>A	NP_001317507.1:p.Leu966Gln
NM_001330579.1:c.2879T>A	NP_001317508.1:p.Leu960Gln
XM_005266424.4:c.3035T>A	XP_005266481.1:p.Leu1012Gln
XM_005266430.4:c.3131T>A	XP_005266487.1:p.Leu1044Gln
XM_005266431.4:c.3095T>A	XP_005266488.1:p.Leu1032Gln
XM_006719837.3:c.3035T>A	XP_006719900.1:p.Leu1012Gln
XM_011535117.3:c.3035T>A	XP_011533419.1:p.Leu1012Gln
XM_017020627.1:c.3035T>A	XP_016876116.1:p.Leu1012Gln
NM_000053.4:c.3131T>A MANE Select	NP_000044.2:p.Leu1044Gln
NM_001005918.3:c.2510T>A	NP_001005918.1:p.Leu837Gln
NM_001330579.2:c.2879T>A	NP_001317508.1:p.Leu960Gln
NM_001243182.2:c.2798T>A	NP_001230111.1:p.Leu933Gln
NM_001330578.2:c.2897T>A	NP_001317507.1:p.Leu966Gln