Canonical Allele Identifier: CA6988850

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 554771
• ClinVar RCV Id: RCV000670460 ; RCV001310697 ; RCV002469248 ; RCV004026114
• dbSNP Id: rs200290721
• ExAC: 13:52520502 G / A
• gnomAD v2: 13-52520502-G-A
• gnomAD v3: 13-51946366-G-A
• gnomAD v4: 13-51946366-G-A
• MyVariant Identifiers: chr13:g.52520502G>A (hg19) ; chr13:g.51946366G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946366G>A , CM000675.2:g.51946366G>A	GRCh38
NC_000013.10:g.52520502G>A , CM000675.1:g.52520502G>A	GRCh37
NC_000013.9:g.51418503G>A	NCBI36
NG_008806.1:g.70129C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*811C>T	ENSP00000489512.2:n.*811C>T
ENST00000673864.2:c.*1722C>T	ENSP00000501045.2:n.*1722C>T
ENST00000674147.2:c.2357C>T	ENSP00000500964.2:p.Thr786Met
ENST00000242839.10:c.2978C>T MANE Select	ENSP00000242839.5:p.Thr993Met
ENST00000344297.9:c.2357C>T	ENSP00000342559.5:p.Thr786Met
ENST00000400366.6:c.2645C>T	ENSP00000383217.3:p.Thr882Met
ENST00000448424.7:c.2726C>T	ENSP00000416738.3:p.Thr909Met
ENST00000673772.1:c.2744C>T	ENSP00000501168.1:p.Thr915Met
ENST00000673867.1:n.1125C>T
ENST00000674126.1:n.3341C>T
ENST00000674147.1:c.1913C>T	ENSP00000500964.1:p.Thr638Met
ENST00000242839.8:c.2978C>T	ENSP00000242839.4:p.Thr993Met
ENST00000344297.8:c.2357C>T	ENSP00000342559.5:p.Thr786Met
ENST00000400366.5:c.2645C>T	ENSP00000383217.3:p.Thr882Met
ENST00000400370.8:c.1688C>T	ENSP00000383221.3:p.Thr563Met
ENST00000418097.7:c.2866-2075C>T	ENSP00000393343.2:n.2866-2075C>T
ENST00000448424.6:c.2744C>T	ENSP00000416738.2:p.Thr915Met
ENST00000466629.1:n.198C>T
ENST00000634296.1:c.939C>T
ENST00000634308.1:c.*79C>T	ENSP00000489234.1:n.*79C>T
ENST00000634620.1:n.3722C>T
ENST00000634810.1:n.2323C>T
ENST00000634844.1:c.2834C>T	ENSP00000489398.1:p.Thr945Met
ENST00000635406.1:n.324C>T
NM_000053.3:c.2978C>T	NP_000044.2:p.Thr993Met
NM_001005918.2:c.2357C>T	NP_001005918.1:p.Thr786Met
NM_001243182.1:c.2645C>T	NP_001230111.1:p.Thr882Met
XM_005266423.2:c.2882C>T	XP_005266480.1:p.Thr961Met
XM_005266424.3:c.2882C>T	XP_005266481.1:p.Thr961Met
XM_005266427.2:c.2744C>T	XP_005266484.1:p.Thr915Met
XM_005266428.1:c.2726C>T	XP_005266485.1:p.Thr909Met
XM_005266430.3:c.2978C>T	XP_005266487.1:p.Thr993Met
XM_005266431.2:c.2942C>T	XP_005266488.1:p.Thr981Met
XM_005266432.2:c.2492C>T	XP_005266489.1:p.Thr831Met
XM_006719837.2:c.2882C>T	XP_006719900.1:p.Thr961Met
XM_006719838.1:c.794C>T	XP_006719901.1:p.Thr265Met
XM_006719839.1:c.794C>T	XP_006719902.1:p.Thr265Met
XM_011535117.1:c.2882C>T	XP_011533419.1:p.Thr961Met
XM_011535118.1:c.2843C>T	XP_011533420.1:p.Thr948Met
XM_011535119.1:c.2978C>T	XP_011533421.1:p.Thr993Met
XM_011535120.1:c.2564C>T	XP_011533422.1:p.Thr855Met
XM_011535121.1:c.2730+3641C>T	XP_011533423.1:n.2730+3641C>T
XM_011535122.1:c.1646C>T	XP_011533424.1:p.Thr549Met
XR_941601.1:n.3197C>T
XR_941602.1:n.3197C>T
XR_941603.1:n.3197C>T
XR_941604.1:n.3197C>T
NM_001330578.1:c.2744C>T	NP_001317507.1:p.Thr915Met
NM_001330579.1:c.2726C>T	NP_001317508.1:p.Thr909Met
XM_005266424.4:c.2882C>T	XP_005266481.1:p.Thr961Met
XM_005266430.4:c.2978C>T	XP_005266487.1:p.Thr993Met
XM_005266431.4:c.2942C>T	XP_005266488.1:p.Thr981Met
XM_006719837.3:c.2882C>T	XP_006719900.1:p.Thr961Met
XM_011535117.3:c.2882C>T	XP_011533419.1:p.Thr961Met
XM_017020627.1:c.2882C>T	XP_016876116.1:p.Thr961Met
NM_000053.4:c.2978C>T MANE Select	NP_000044.2:p.Thr993Met
NM_001005918.3:c.2357C>T	NP_001005918.1:p.Thr786Met
NM_001330579.2:c.2726C>T	NP_001317508.1:p.Thr909Met
NM_001243182.2:c.2645C>T	NP_001230111.1:p.Thr882Met
NM_001330578.2:c.2744C>T	NP_001317507.1:p.Thr915Met