Canonical Allele Identifier: CA388029829

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51944132-C-A
• MyVariant Identifiers: chr13:g.52518268C>A (hg19) ; chr13:g.51944132C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944132C>A , CM000675.2:g.51944132C>A	GRCh38
NC_000013.10:g.52518268C>A , CM000675.1:g.52518268C>A	GRCh37
NC_000013.9:g.51416269C>A	NCBI36
NG_008806.1:g.72363G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1578G>T	ENSP00000489512.2:n.*894-1578G>T
ENST00000673864.2:c.*1964G>T	ENSP00000501045.2:n.*1964G>T
ENST00000674147.2:c.2599G>T	ENSP00000500964.2:p.Ala867Ser
ENST00000242839.10:c.3220G>T MANE Select	ENSP00000242839.5:p.Ala1074Ser
ENST00000344297.9:c.2599G>T	ENSP00000342559.5:p.Ala867Ser
ENST00000400366.6:c.2887G>T	ENSP00000383217.3:p.Ala963Ser
ENST00000448424.7:c.2968G>T	ENSP00000416738.3:p.Ala990Ser
ENST00000673772.1:c.2986G>T	ENSP00000501168.1:p.Ala996Ser
ENST00000673867.1:n.3359G>T
ENST00000674126.1:n.3583G>T
ENST00000674147.1:c.2155G>T	ENSP00000500964.1:p.Ala719Ser
ENST00000242839.8:c.3220G>T	ENSP00000242839.4:p.Ala1074Ser
ENST00000344297.8:c.2599G>T	ENSP00000342559.5:p.Ala867Ser
ENST00000400366.5:c.2887G>T	ENSP00000383217.3:p.Ala963Ser
ENST00000400370.8:c.1930G>T	ENSP00000383221.3:p.Ala644Ser
ENST00000418097.7:c.3025G>T	ENSP00000393343.2:p.Ala1009Ser
ENST00000448424.6:c.2986G>T	ENSP00000416738.2:p.Ala996Ser
ENST00000466629.1:n.440G>T
ENST00000634296.1:c.1022-1578G>T
ENST00000634308.1:c.*321G>T	ENSP00000489234.1:n.*321G>T
ENST00000634620.1:n.3964G>T
ENST00000634810.1:n.2565G>T
ENST00000634844.1:c.3076G>T	ENSP00000489398.1:p.Ala1026Ser
NM_000053.3:c.3220G>T	NP_000044.2:p.Ala1074Ser
NM_001005918.2:c.2599G>T	NP_001005918.1:p.Ala867Ser
NM_001243182.1:c.2887G>T	NP_001230111.1:p.Ala963Ser
XM_005266423.2:c.3124G>T	XP_005266480.1:p.Ala1042Ser
XM_005266424.3:c.3124G>T	XP_005266481.1:p.Ala1042Ser
XM_005266427.2:c.2986G>T	XP_005266484.1:p.Ala996Ser
XM_005266428.1:c.2968G>T	XP_005266485.1:p.Ala990Ser
XM_005266430.3:c.3220G>T	XP_005266487.1:p.Ala1074Ser
XM_005266431.2:c.3184G>T	XP_005266488.1:p.Ala1062Ser
XM_005266432.2:c.2734G>T	XP_005266489.1:p.Ala912Ser
XM_006719837.2:c.3124G>T	XP_006719900.1:p.Ala1042Ser
XM_006719838.1:c.1036G>T	XP_006719901.1:p.Ala346Ser
XM_006719839.1:c.877-1578G>T	XP_006719902.1:n.877-1578G>T
XM_011535117.1:c.3124G>T	XP_011533419.1:p.Ala1042Ser
XM_011535118.1:c.3085G>T	XP_011533420.1:p.Ala1029Ser
XM_011535119.1:c.3061-1578G>T	XP_011533421.1:n.3061-1578G>T
XM_011535120.1:c.2806G>T	XP_011533422.1:p.Ala936Ser
XM_011535121.1:c.2731-1578G>T	XP_011533423.1:n.2731-1578G>T
XM_011535122.1:c.1888G>T	XP_011533424.1:p.Ala630Ser
XR_941601.1:n.3439G>T
XR_941602.1:n.3439G>T
XR_941603.1:n.3439G>T
XR_941604.1:n.3439G>T
NM_001330578.1:c.2986G>T	NP_001317507.1:p.Ala996Ser
NM_001330579.1:c.2968G>T	NP_001317508.1:p.Ala990Ser
XM_005266424.4:c.3124G>T	XP_005266481.1:p.Ala1042Ser
XM_005266430.4:c.3220G>T	XP_005266487.1:p.Ala1074Ser
XM_005266431.4:c.3184G>T	XP_005266488.1:p.Ala1062Ser
XM_006719837.3:c.3124G>T	XP_006719900.1:p.Ala1042Ser
XM_011535117.3:c.3124G>T	XP_011533419.1:p.Ala1042Ser
XM_017020627.1:c.3124G>T	XP_016876116.1:p.Ala1042Ser
NM_000053.4:c.3220G>T MANE Select	NP_000044.2:p.Ala1074Ser
NM_001005918.3:c.2599G>T	NP_001005918.1:p.Ala867Ser
NM_001330579.2:c.2968G>T	NP_001317508.1:p.Ala990Ser
NM_001243182.2:c.2887G>T	NP_001230111.1:p.Ala963Ser
NM_001330578.2:c.2986G>T	NP_001317507.1:p.Ala996Ser