Canonical Allele Identifier: CA388030249

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518358G>T (hg19) ; chr13:g.51944222G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944222G>T , CM000675.2:g.51944222G>T	GRCh38
NC_000013.10:g.52518358G>T , CM000675.1:g.52518358G>T	GRCh37
NC_000013.9:g.51416359G>T	NCBI36
NG_008806.1:g.72273C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1668C>A	ENSP00000489512.2:n.*894-1668C>A
ENST00000673864.2:c.*1874C>A	ENSP00000501045.2:n.*1874C>A
ENST00000674147.2:c.2509C>A	ENSP00000500964.2:p.Leu837Met
ENST00000242839.10:c.3130C>A MANE Select	ENSP00000242839.5:p.Leu1044Met
ENST00000344297.9:c.2509C>A	ENSP00000342559.5:p.Leu837Met
ENST00000400366.6:c.2797C>A	ENSP00000383217.3:p.Leu933Met
ENST00000448424.7:c.2878C>A	ENSP00000416738.3:p.Leu960Met
ENST00000673772.1:c.2896C>A	ENSP00000501168.1:p.Leu966Met
ENST00000673867.1:n.3269C>A
ENST00000674126.1:n.3493C>A
ENST00000674147.1:c.2065C>A	ENSP00000500964.1:p.Leu689Met
ENST00000242839.8:c.3130C>A	ENSP00000242839.4:p.Leu1044Met
ENST00000344297.8:c.2509C>A	ENSP00000342559.5:p.Leu837Met
ENST00000400366.5:c.2797C>A	ENSP00000383217.3:p.Leu933Met
ENST00000400370.8:c.1840C>A	ENSP00000383221.3:p.Leu614Met
ENST00000418097.7:c.2935C>A	ENSP00000393343.2:p.Leu979Met
ENST00000448424.6:c.2896C>A	ENSP00000416738.2:p.Leu966Met
ENST00000466629.1:n.350C>A
ENST00000634296.1:c.1022-1668C>A
ENST00000634308.1:c.*231C>A	ENSP00000489234.1:n.*231C>A
ENST00000634620.1:n.3874C>A
ENST00000634810.1:n.2475C>A
ENST00000634844.1:c.2986C>A	ENSP00000489398.1:p.Leu996Met
ENST00000635406.1:n.476C>A
NM_000053.3:c.3130C>A	NP_000044.2:p.Leu1044Met
NM_001005918.2:c.2509C>A	NP_001005918.1:p.Leu837Met
NM_001243182.1:c.2797C>A	NP_001230111.1:p.Leu933Met
XM_005266423.2:c.3034C>A	XP_005266480.1:p.Leu1012Met
XM_005266424.3:c.3034C>A	XP_005266481.1:p.Leu1012Met
XM_005266427.2:c.2896C>A	XP_005266484.1:p.Leu966Met
XM_005266428.1:c.2878C>A	XP_005266485.1:p.Leu960Met
XM_005266430.3:c.3130C>A	XP_005266487.1:p.Leu1044Met
XM_005266431.2:c.3094C>A	XP_005266488.1:p.Leu1032Met
XM_005266432.2:c.2644C>A	XP_005266489.1:p.Leu882Met
XM_006719837.2:c.3034C>A	XP_006719900.1:p.Leu1012Met
XM_006719838.1:c.946C>A	XP_006719901.1:p.Leu316Met
XM_006719839.1:c.877-1668C>A	XP_006719902.1:n.877-1668C>A
XM_011535117.1:c.3034C>A	XP_011533419.1:p.Leu1012Met
XM_011535118.1:c.2995C>A	XP_011533420.1:p.Leu999Met
XM_011535119.1:c.3061-1668C>A	XP_011533421.1:n.3061-1668C>A
XM_011535120.1:c.2716C>A	XP_011533422.1:p.Leu906Met
XM_011535121.1:c.2731-1668C>A	XP_011533423.1:n.2731-1668C>A
XM_011535122.1:c.1798C>A	XP_011533424.1:p.Leu600Met
XR_941601.1:n.3349C>A
XR_941602.1:n.3349C>A
XR_941603.1:n.3349C>A
XR_941604.1:n.3349C>A
NM_001330578.1:c.2896C>A	NP_001317507.1:p.Leu966Met
NM_001330579.1:c.2878C>A	NP_001317508.1:p.Leu960Met
XM_005266424.4:c.3034C>A	XP_005266481.1:p.Leu1012Met
XM_005266430.4:c.3130C>A	XP_005266487.1:p.Leu1044Met
XM_005266431.4:c.3094C>A	XP_005266488.1:p.Leu1032Met
XM_006719837.3:c.3034C>A	XP_006719900.1:p.Leu1012Met
XM_011535117.3:c.3034C>A	XP_011533419.1:p.Leu1012Met
XM_017020627.1:c.3034C>A	XP_016876116.1:p.Leu1012Met
NM_000053.4:c.3130C>A MANE Select	NP_000044.2:p.Leu1044Met
NM_001005918.3:c.2509C>A	NP_001005918.1:p.Leu837Met
NM_001330579.2:c.2878C>A	NP_001317508.1:p.Leu960Met
NM_001243182.2:c.2797C>A	NP_001230111.1:p.Leu933Met
NM_001330578.2:c.2896C>A	NP_001317507.1:p.Leu966Met