Canonical Allele Identifier: CA6988844

Gene: ATP7B

Linked Data

• dbSNP Id: rs779874354
• ExAC: 13:52520492 C / A
• gnomAD v2: 13-52520492-C-A
• gnomAD v4: 13-51946356-C-A
• MyVariant Identifiers: chr13:g.52520492C>A (hg19) ; chr13:g.51946356C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946356C>A , CM000675.2:g.51946356C>A	GRCh38
NC_000013.10:g.52520492C>A , CM000675.1:g.52520492C>A	GRCh37
NC_000013.9:g.51418493C>A	NCBI36
NG_008806.1:g.70139G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*821G>T	ENSP00000489512.2:n.*821G>T
ENST00000673864.2:c.*1732G>T	ENSP00000501045.2:n.*1732G>T
ENST00000674147.2:c.2367G>T	ENSP00000500964.2:p.Met789Ile
ENST00000242839.10:c.2988G>T MANE Select	ENSP00000242839.5:p.Met996Ile
ENST00000344297.9:c.2367G>T	ENSP00000342559.5:p.Met789Ile
ENST00000400366.6:c.2655G>T	ENSP00000383217.3:p.Met885Ile
ENST00000448424.7:c.2736G>T	ENSP00000416738.3:p.Met912Ile
ENST00000673772.1:c.2754G>T	ENSP00000501168.1:p.Met918Ile
ENST00000673867.1:n.1135G>T
ENST00000674126.1:n.3351G>T
ENST00000674147.1:c.1923G>T	ENSP00000500964.1:p.Met641Ile
ENST00000242839.8:c.2988G>T	ENSP00000242839.4:p.Met996Ile
ENST00000344297.8:c.2367G>T	ENSP00000342559.5:p.Met789Ile
ENST00000400366.5:c.2655G>T	ENSP00000383217.3:p.Met885Ile
ENST00000400370.8:c.1698G>T	ENSP00000383221.3:p.Met566Ile
ENST00000418097.7:c.2866-2065G>T	ENSP00000393343.2:n.2866-2065G>T
ENST00000448424.6:c.2754G>T	ENSP00000416738.2:p.Met918Ile
ENST00000466629.1:n.208G>T
ENST00000634296.1:c.949G>T
ENST00000634308.1:c.*89G>T	ENSP00000489234.1:n.*89G>T
ENST00000634620.1:n.3732G>T
ENST00000634810.1:n.2333G>T
ENST00000634844.1:c.2844G>T	ENSP00000489398.1:p.Met948Ile
ENST00000635406.1:n.334G>T
NM_000053.3:c.2988G>T	NP_000044.2:p.Met996Ile
NM_001005918.2:c.2367G>T	NP_001005918.1:p.Met789Ile
NM_001243182.1:c.2655G>T	NP_001230111.1:p.Met885Ile
XM_005266423.2:c.2892G>T	XP_005266480.1:p.Met964Ile
XM_005266424.3:c.2892G>T	XP_005266481.1:p.Met964Ile
XM_005266427.2:c.2754G>T	XP_005266484.1:p.Met918Ile
XM_005266428.1:c.2736G>T	XP_005266485.1:p.Met912Ile
XM_005266430.3:c.2988G>T	XP_005266487.1:p.Met996Ile
XM_005266431.2:c.2952G>T	XP_005266488.1:p.Met984Ile
XM_005266432.2:c.2502G>T	XP_005266489.1:p.Met834Ile
XM_006719837.2:c.2892G>T	XP_006719900.1:p.Met964Ile
XM_006719838.1:c.804G>T	XP_006719901.1:p.Met268Ile
XM_006719839.1:c.804G>T	XP_006719902.1:p.Met268Ile
XM_011535117.1:c.2892G>T	XP_011533419.1:p.Met964Ile
XM_011535118.1:c.2853G>T	XP_011533420.1:p.Met951Ile
XM_011535119.1:c.2988G>T	XP_011533421.1:p.Met996Ile
XM_011535120.1:c.2574G>T	XP_011533422.1:p.Met858Ile
XM_011535121.1:c.2730+3651G>T	XP_011533423.1:n.2730+3651G>T
XM_011535122.1:c.1656G>T	XP_011533424.1:p.Met552Ile
XR_941601.1:n.3207G>T
XR_941602.1:n.3207G>T
XR_941603.1:n.3207G>T
XR_941604.1:n.3207G>T
NM_001330578.1:c.2754G>T	NP_001317507.1:p.Met918Ile
NM_001330579.1:c.2736G>T	NP_001317508.1:p.Met912Ile
XM_005266424.4:c.2892G>T	XP_005266481.1:p.Met964Ile
XM_005266430.4:c.2988G>T	XP_005266487.1:p.Met996Ile
XM_005266431.4:c.2952G>T	XP_005266488.1:p.Met984Ile
XM_006719837.3:c.2892G>T	XP_006719900.1:p.Met964Ile
XM_011535117.3:c.2892G>T	XP_011533419.1:p.Met964Ile
XM_017020627.1:c.2892G>T	XP_016876116.1:p.Met964Ile
NM_000053.4:c.2988G>T MANE Select	NP_000044.2:p.Met996Ile
NM_001005918.3:c.2367G>T	NP_001005918.1:p.Met789Ile
NM_001330579.2:c.2736G>T	NP_001317508.1:p.Met912Ile
NM_001243182.2:c.2655G>T	NP_001230111.1:p.Met885Ile
NM_001330578.2:c.2754G>T	NP_001317507.1:p.Met918Ile