Canonical Allele Identifier: CA6988860

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 862055
• ClinVar RCV Id: RCV001068702 ; RCV002254330
• dbSNP Id: rs778163447
• ExAC: 13:52520556 G / T
• gnomAD v2: 13-52520556-G-T
• gnomAD v3: 13-51946420-G-T
• gnomAD v4: 13-51946420-G-T
• MyVariant Identifiers: chr13:g.52520556G>T (hg19) ; chr13:g.51946420G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946420G>T , CM000675.2:g.51946420G>T	GRCh38
NC_000013.10:g.52520556G>T , CM000675.1:g.52520556G>T	GRCh37
NC_000013.9:g.51418557G>T	NCBI36
NG_008806.1:g.70075C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*757C>A	ENSP00000489512.2:n.*757C>A
ENST00000673864.2:c.*1668C>A	ENSP00000501045.2:n.*1668C>A
ENST00000674147.2:c.2303C>A	ENSP00000500964.2:p.Ser768Tyr
ENST00000242839.10:c.2924C>A MANE Select	ENSP00000242839.5:p.Ser975Tyr
ENST00000344297.9:c.2303C>A	ENSP00000342559.5:p.Ser768Tyr
ENST00000400366.6:c.2591C>A	ENSP00000383217.3:p.Ser864Tyr
ENST00000448424.7:c.2672C>A	ENSP00000416738.3:p.Ser891Tyr
ENST00000673772.1:c.2690C>A	ENSP00000501168.1:p.Ser897Tyr
ENST00000673867.1:n.1071C>A
ENST00000674126.1:n.3287C>A
ENST00000674147.1:c.1859C>A	ENSP00000500964.1:p.Ser620Tyr
ENST00000242839.8:c.2924C>A	ENSP00000242839.4:p.Ser975Tyr
ENST00000344297.8:c.2303C>A	ENSP00000342559.5:p.Ser768Tyr
ENST00000400366.5:c.2591C>A	ENSP00000383217.3:p.Ser864Tyr
ENST00000400370.8:c.1634C>A	ENSP00000383221.3:p.Ser545Tyr
ENST00000418097.7:c.2866-2129C>A	ENSP00000393343.2:n.2866-2129C>A
ENST00000448424.6:c.2690C>A	ENSP00000416738.2:p.Ser897Tyr
ENST00000466629.1:n.144C>A
ENST00000634296.1:c.885C>A
ENST00000634308.1:c.*25C>A	ENSP00000489234.1:n.*25C>A
ENST00000634620.1:n.3668C>A
ENST00000634810.1:n.2269C>A
ENST00000634844.1:c.2780C>A	ENSP00000489398.1:p.Ser927Tyr
ENST00000635406.1:n.270C>A
NM_000053.3:c.2924C>A	NP_000044.2:p.Ser975Tyr
NM_001005918.2:c.2303C>A	NP_001005918.1:p.Ser768Tyr
NM_001243182.1:c.2591C>A	NP_001230111.1:p.Ser864Tyr
XM_005266423.2:c.2828C>A	XP_005266480.1:p.Ser943Tyr
XM_005266424.3:c.2828C>A	XP_005266481.1:p.Ser943Tyr
XM_005266427.2:c.2690C>A	XP_005266484.1:p.Ser897Tyr
XM_005266428.1:c.2672C>A	XP_005266485.1:p.Ser891Tyr
XM_005266430.3:c.2924C>A	XP_005266487.1:p.Ser975Tyr
XM_005266431.2:c.2888C>A	XP_005266488.1:p.Ser963Tyr
XM_005266432.2:c.2438C>A	XP_005266489.1:p.Ser813Tyr
XM_006719837.2:c.2828C>A	XP_006719900.1:p.Ser943Tyr
XM_006719838.1:c.740C>A	XP_006719901.1:p.Ser247Tyr
XM_006719839.1:c.740C>A	XP_006719902.1:p.Ser247Tyr
XM_011535117.1:c.2828C>A	XP_011533419.1:p.Ser943Tyr
XM_011535118.1:c.2789C>A	XP_011533420.1:p.Ser930Tyr
XM_011535119.1:c.2924C>A	XP_011533421.1:p.Ser975Tyr
XM_011535120.1:c.2510C>A	XP_011533422.1:p.Ser837Tyr
XM_011535121.1:c.2730+3587C>A	XP_011533423.1:n.2730+3587C>A
XM_011535122.1:c.1592C>A	XP_011533424.1:p.Ser531Tyr
XR_941601.1:n.3143C>A
XR_941602.1:n.3143C>A
XR_941603.1:n.3143C>A
XR_941604.1:n.3143C>A
NM_001330578.1:c.2690C>A	NP_001317507.1:p.Ser897Tyr
NM_001330579.1:c.2672C>A	NP_001317508.1:p.Ser891Tyr
XM_005266424.4:c.2828C>A	XP_005266481.1:p.Ser943Tyr
XM_005266430.4:c.2924C>A	XP_005266487.1:p.Ser975Tyr
XM_005266431.4:c.2888C>A	XP_005266488.1:p.Ser963Tyr
XM_006719837.3:c.2828C>A	XP_006719900.1:p.Ser943Tyr
XM_011535117.3:c.2828C>A	XP_011533419.1:p.Ser943Tyr
XM_017020627.1:c.2828C>A	XP_016876116.1:p.Ser943Tyr
NM_000053.4:c.2924C>A MANE Select	NP_000044.2:p.Ser975Tyr
NM_001005918.3:c.2303C>A	NP_001005918.1:p.Ser768Tyr
NM_001330579.2:c.2672C>A	NP_001317508.1:p.Ser891Tyr
NM_001243182.2:c.2591C>A	NP_001230111.1:p.Ser864Tyr
NM_001330578.2:c.2690C>A	NP_001317507.1:p.Ser897Tyr