Canonical Allele Identifier: CA388026421

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1404876
• ClinVar RCV Id: RCV001903447
• dbSNP Id: rs2138782354
• gnomAD v4: 13-51941153-A-G
• MyVariant Identifiers: chr13:g.52515289A>G (hg19) ; chr13:g.51941153A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941153A>G , CM000675.2:g.51941153A>G	GRCh38
NC_000013.10:g.52515289A>G , CM000675.1:g.52515289A>G	GRCh37
NC_000013.9:g.51413290A>G	NCBI36
NG_008806.1:g.75342T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1134T>C	ENSP00000489512.2:n.*1134T>C
ENST00000673864.2:c.*2228T>C	ENSP00000501045.2:n.*2228T>C
ENST00000674147.2:c.2863T>C	ENSP00000500964.2:p.Ser955Pro
ENST00000242839.10:c.3484T>C MANE Select	ENSP00000242839.5:p.Ser1162Pro
ENST00000344297.9:c.2863T>C	ENSP00000342559.5:p.Ser955Pro
ENST00000400366.6:c.3151T>C	ENSP00000383217.3:p.Ser1051Pro
ENST00000448424.7:c.3232T>C	ENSP00000416738.3:p.Ser1078Pro
ENST00000673772.1:c.3250T>C	ENSP00000501168.1:p.Ser1084Pro
ENST00000673867.1:n.3623T>C
ENST00000674126.1:n.3847T>C
ENST00000674147.1:c.2419T>C	ENSP00000500964.1:p.Ser807Pro
ENST00000242839.8:c.3484T>C	ENSP00000242839.4:p.Ser1162Pro
ENST00000344297.8:c.2863T>C	ENSP00000342559.5:p.Ser955Pro
ENST00000400366.5:c.3151T>C	ENSP00000383217.3:p.Ser1051Pro
ENST00000400370.8:c.2194T>C	ENSP00000383221.3:p.Ser732Pro
ENST00000418097.7:c.3289T>C	ENSP00000393343.2:p.Ser1097Pro
ENST00000448424.6:c.3250T>C	ENSP00000416738.2:p.Ser1084Pro
ENST00000634296.1:c.1262T>C
ENST00000634308.1:c.*585T>C	ENSP00000489234.1:n.*585T>C
ENST00000634620.1:n.4228T>C
ENST00000634810.1:n.2829T>C
ENST00000634844.1:c.3340T>C	ENSP00000489398.1:p.Ser1114Pro
NM_000053.3:c.3484T>C	NP_000044.2:p.Ser1162Pro
NM_001005918.2:c.2863T>C	NP_001005918.1:p.Ser955Pro
NM_001243182.1:c.3151T>C	NP_001230111.1:p.Ser1051Pro
XM_005266423.2:c.3388T>C	XP_005266480.1:p.Ser1130Pro
XM_005266424.3:c.3388T>C	XP_005266481.1:p.Ser1130Pro
XM_005266427.2:c.3250T>C	XP_005266484.1:p.Ser1084Pro
XM_005266428.1:c.3232T>C	XP_005266485.1:p.Ser1078Pro
XM_005266430.3:c.3484T>C	XP_005266487.1:p.Ser1162Pro
XM_005266431.2:c.3448T>C	XP_005266488.1:p.Ser1150Pro
XM_005266432.2:c.2998T>C	XP_005266489.1:p.Ser1000Pro
XM_006719837.2:c.3388T>C	XP_006719900.1:p.Ser1130Pro
XM_006719838.1:c.1300T>C	XP_006719901.1:p.Ser434Pro
XM_006719839.1:c.1117T>C	XP_006719902.1:p.Ser373Pro
XM_011535117.1:c.3388T>C	XP_011533419.1:p.Ser1130Pro
XM_011535118.1:c.3349T>C	XP_011533420.1:p.Ser1117Pro
XM_011535119.1:c.3301T>C	XP_011533421.1:p.Ser1101Pro
XM_011535120.1:c.3070T>C	XP_011533422.1:p.Ser1024Pro
XM_011535121.1:c.2971T>C	XP_011533423.1:p.Ser991Pro
XM_011535122.1:c.2152T>C	XP_011533424.1:p.Ser718Pro
XR_941601.1:n.3703T>C
XR_941602.1:n.3703T>C
XR_941603.1:n.3703T>C
XR_941604.1:n.3703T>C
NM_001330578.1:c.3250T>C	NP_001317507.1:p.Ser1084Pro
NM_001330579.1:c.3232T>C	NP_001317508.1:p.Ser1078Pro
XM_005266424.4:c.3388T>C	XP_005266481.1:p.Ser1130Pro
XM_005266430.4:c.3484T>C	XP_005266487.1:p.Ser1162Pro
XM_005266431.4:c.3448T>C	XP_005266488.1:p.Ser1150Pro
XM_006719837.3:c.3388T>C	XP_006719900.1:p.Ser1130Pro
XM_011535117.3:c.3388T>C	XP_011533419.1:p.Ser1130Pro
XM_017020627.1:c.3388T>C	XP_016876116.1:p.Ser1130Pro
NM_000053.4:c.3484T>C MANE Select	NP_000044.2:p.Ser1162Pro
NM_001005918.3:c.2863T>C	NP_001005918.1:p.Ser955Pro
NM_001330579.2:c.3232T>C	NP_001317508.1:p.Ser1078Pro
NM_001243182.2:c.3151T>C	NP_001230111.1:p.Ser1051Pro
NM_001330578.2:c.3250T>C	NP_001317507.1:p.Ser1084Pro