Canonical Allele Identifier: CA6988872

Gene: ATP7B

Linked Data

• dbSNP Id: rs760035704
• ExAC: 13:52520595 G / C
• gnomAD v2: 13-52520595-G-C
• MyVariant Identifiers: chr13:g.52520595G>C (hg19) ; chr13:g.51946459G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946459G>C , CM000675.2:g.51946459G>C	GRCh38
NC_000013.10:g.52520595G>C , CM000675.1:g.52520595G>C	GRCh37
NC_000013.9:g.51418596G>C	NCBI36
NG_008806.1:g.70036C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*718C>G	ENSP00000489512.2:n.*718C>G
ENST00000673864.2:c.*1629C>G	ENSP00000501045.2:n.*1629C>G
ENST00000674147.2:c.2264C>G	ENSP00000500964.2:p.Ser755Cys
ENST00000242839.10:c.2885C>G MANE Select	ENSP00000242839.5:p.Ser962Cys
ENST00000344297.9:c.2264C>G	ENSP00000342559.5:p.Ser755Cys
ENST00000400366.6:c.2552C>G	ENSP00000383217.3:p.Ser851Cys
ENST00000448424.7:c.2633C>G	ENSP00000416738.3:p.Ser878Cys
ENST00000673772.1:c.2651C>G	ENSP00000501168.1:p.Ser884Cys
ENST00000673867.1:n.1032C>G
ENST00000674126.1:n.3248C>G
ENST00000674147.1:c.1820C>G	ENSP00000500964.1:p.Ser607Cys
ENST00000242839.8:c.2885C>G	ENSP00000242839.4:p.Ser962Cys
ENST00000344297.8:c.2264C>G	ENSP00000342559.5:p.Ser755Cys
ENST00000400366.5:c.2552C>G	ENSP00000383217.3:p.Ser851Cys
ENST00000400370.8:c.1595C>G	ENSP00000383221.3:p.Ser532Cys
ENST00000418097.7:c.2866-2168C>G	ENSP00000393343.2:n.2866-2168C>G
ENST00000448424.6:c.2651C>G	ENSP00000416738.2:p.Ser884Cys
ENST00000466629.1:n.105C>G
ENST00000634296.1:c.846C>G
ENST00000634308.1:c.2671C>G	ENSP00000489234.1:p.Pro891Ala
ENST00000634620.1:n.3629C>G
ENST00000634810.1:n.2230C>G
ENST00000634844.1:c.2741C>G	ENSP00000489398.1:p.Ser914Cys
ENST00000635406.1:n.231C>G
NM_000053.3:c.2885C>G	NP_000044.2:p.Ser962Cys
NM_001005918.2:c.2264C>G	NP_001005918.1:p.Ser755Cys
NM_001243182.1:c.2552C>G	NP_001230111.1:p.Ser851Cys
XM_005266423.2:c.2789C>G	XP_005266480.1:p.Ser930Cys
XM_005266424.3:c.2789C>G	XP_005266481.1:p.Ser930Cys
XM_005266427.2:c.2651C>G	XP_005266484.1:p.Ser884Cys
XM_005266428.1:c.2633C>G	XP_005266485.1:p.Ser878Cys
XM_005266430.3:c.2885C>G	XP_005266487.1:p.Ser962Cys
XM_005266431.2:c.2849C>G	XP_005266488.1:p.Ser950Cys
XM_005266432.2:c.2399C>G	XP_005266489.1:p.Ser800Cys
XM_006719837.2:c.2789C>G	XP_006719900.1:p.Ser930Cys
XM_006719838.1:c.701C>G	XP_006719901.1:p.Ser234Cys
XM_006719839.1:c.701C>G	XP_006719902.1:p.Ser234Cys
XM_011535117.1:c.2789C>G	XP_011533419.1:p.Ser930Cys
XM_011535118.1:c.2750C>G	XP_011533420.1:p.Ser917Cys
XM_011535119.1:c.2885C>G	XP_011533421.1:p.Ser962Cys
XM_011535120.1:c.2471C>G	XP_011533422.1:p.Ser824Cys
XM_011535121.1:c.2730+3548C>G	XP_011533423.1:n.2730+3548C>G
XM_011535122.1:c.1553C>G	XP_011533424.1:p.Ser518Cys
XR_941601.1:n.3104C>G
XR_941602.1:n.3104C>G
XR_941603.1:n.3104C>G
XR_941604.1:n.3104C>G
NM_001330578.1:c.2651C>G	NP_001317507.1:p.Ser884Cys
NM_001330579.1:c.2633C>G	NP_001317508.1:p.Ser878Cys
XM_005266424.4:c.2789C>G	XP_005266481.1:p.Ser930Cys
XM_005266430.4:c.2885C>G	XP_005266487.1:p.Ser962Cys
XM_005266431.4:c.2849C>G	XP_005266488.1:p.Ser950Cys
XM_006719837.3:c.2789C>G	XP_006719900.1:p.Ser930Cys
XM_011535117.3:c.2789C>G	XP_011533419.1:p.Ser930Cys
XM_017020627.1:c.2789C>G	XP_016876116.1:p.Ser930Cys
NM_000053.4:c.2885C>G MANE Select	NP_000044.2:p.Ser962Cys
NM_001005918.3:c.2264C>G	NP_001005918.1:p.Ser755Cys
NM_001330579.2:c.2633C>G	NP_001317508.1:p.Ser878Cys
NM_001243182.2:c.2552C>G	NP_001230111.1:p.Ser851Cys
NM_001330578.2:c.2651C>G	NP_001317507.1:p.Ser884Cys