Canonical Allele Identifier: CA388032252

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520515G>T (hg19) ; chr13:g.51946379G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946379G>T , CM000675.2:g.51946379G>T	GRCh38
NC_000013.10:g.52520515G>T , CM000675.1:g.52520515G>T	GRCh37
NC_000013.9:g.51418516G>T	NCBI36
NG_008806.1:g.70116C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*798C>A	ENSP00000489512.2:n.*798C>A
ENST00000673864.2:c.*1709C>A	ENSP00000501045.2:n.*1709C>A
ENST00000674147.2:c.2344C>A	ENSP00000500964.2:p.Leu782Met
ENST00000242839.10:c.2965C>A MANE Select	ENSP00000242839.5:p.Leu989Met
ENST00000344297.9:c.2344C>A	ENSP00000342559.5:p.Leu782Met
ENST00000400366.6:c.2632C>A	ENSP00000383217.3:p.Leu878Met
ENST00000448424.7:c.2713C>A	ENSP00000416738.3:p.Leu905Met
ENST00000673772.1:c.2731C>A	ENSP00000501168.1:p.Leu911Met
ENST00000673867.1:n.1112C>A
ENST00000674126.1:n.3328C>A
ENST00000674147.1:c.1900C>A	ENSP00000500964.1:p.Leu634Met
ENST00000242839.8:c.2965C>A	ENSP00000242839.4:p.Leu989Met
ENST00000344297.8:c.2344C>A	ENSP00000342559.5:p.Leu782Met
ENST00000400366.5:c.2632C>A	ENSP00000383217.3:p.Leu878Met
ENST00000400370.8:c.1675C>A	ENSP00000383221.3:p.Leu559Met
ENST00000418097.7:c.2866-2088C>A	ENSP00000393343.2:n.2866-2088C>A
ENST00000448424.6:c.2731C>A	ENSP00000416738.2:p.Leu911Met
ENST00000466629.1:n.185C>A
ENST00000634296.1:c.926C>A
ENST00000634308.1:c.*66C>A	ENSP00000489234.1:n.*66C>A
ENST00000634620.1:n.3709C>A
ENST00000634810.1:n.2310C>A
ENST00000634844.1:c.2821C>A	ENSP00000489398.1:p.Leu941Met
ENST00000635406.1:n.311C>A
NM_000053.3:c.2965C>A	NP_000044.2:p.Leu989Met
NM_001005918.2:c.2344C>A	NP_001005918.1:p.Leu782Met
NM_001243182.1:c.2632C>A	NP_001230111.1:p.Leu878Met
XM_005266423.2:c.2869C>A	XP_005266480.1:p.Leu957Met
XM_005266424.3:c.2869C>A	XP_005266481.1:p.Leu957Met
XM_005266427.2:c.2731C>A	XP_005266484.1:p.Leu911Met
XM_005266428.1:c.2713C>A	XP_005266485.1:p.Leu905Met
XM_005266430.3:c.2965C>A	XP_005266487.1:p.Leu989Met
XM_005266431.2:c.2929C>A	XP_005266488.1:p.Leu977Met
XM_005266432.2:c.2479C>A	XP_005266489.1:p.Leu827Met
XM_006719837.2:c.2869C>A	XP_006719900.1:p.Leu957Met
XM_006719838.1:c.781C>A	XP_006719901.1:p.Leu261Met
XM_006719839.1:c.781C>A	XP_006719902.1:p.Leu261Met
XM_011535117.1:c.2869C>A	XP_011533419.1:p.Leu957Met
XM_011535118.1:c.2830C>A	XP_011533420.1:p.Leu944Met
XM_011535119.1:c.2965C>A	XP_011533421.1:p.Leu989Met
XM_011535120.1:c.2551C>A	XP_011533422.1:p.Leu851Met
XM_011535121.1:c.2730+3628C>A	XP_011533423.1:n.2730+3628C>A
XM_011535122.1:c.1633C>A	XP_011533424.1:p.Leu545Met
XR_941601.1:n.3184C>A
XR_941602.1:n.3184C>A
XR_941603.1:n.3184C>A
XR_941604.1:n.3184C>A
NM_001330578.1:c.2731C>A	NP_001317507.1:p.Leu911Met
NM_001330579.1:c.2713C>A	NP_001317508.1:p.Leu905Met
XM_005266424.4:c.2869C>A	XP_005266481.1:p.Leu957Met
XM_005266430.4:c.2965C>A	XP_005266487.1:p.Leu989Met
XM_005266431.4:c.2929C>A	XP_005266488.1:p.Leu977Met
XM_006719837.3:c.2869C>A	XP_006719900.1:p.Leu957Met
XM_011535117.3:c.2869C>A	XP_011533419.1:p.Leu957Met
XM_017020627.1:c.2869C>A	XP_016876116.1:p.Leu957Met
NM_000053.4:c.2965C>A MANE Select	NP_000044.2:p.Leu989Met
NM_001005918.3:c.2344C>A	NP_001005918.1:p.Leu782Met
NM_001330579.2:c.2713C>A	NP_001317508.1:p.Leu905Met
NM_001243182.2:c.2632C>A	NP_001230111.1:p.Leu878Met
NM_001330578.2:c.2731C>A	NP_001317507.1:p.Leu911Met