Canonical Allele Identifier: CA388032344

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520541C>G (hg19) ; chr13:g.51946405C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946405C>G , CM000675.2:g.51946405C>G	GRCh38
NC_000013.10:g.52520541C>G , CM000675.1:g.52520541C>G	GRCh37
NC_000013.9:g.51418542C>G	NCBI36
NG_008806.1:g.70090G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*772G>C	ENSP00000489512.2:n.*772G>C
ENST00000673864.2:c.*1683G>C	ENSP00000501045.2:n.*1683G>C
ENST00000674147.2:c.2318G>C	ENSP00000500964.2:p.Cys773Ser
ENST00000242839.10:c.2939G>C MANE Select	ENSP00000242839.5:p.Cys980Ser
ENST00000344297.9:c.2318G>C	ENSP00000342559.5:p.Cys773Ser
ENST00000400366.6:c.2606G>C	ENSP00000383217.3:p.Cys869Ser
ENST00000448424.7:c.2687G>C	ENSP00000416738.3:p.Cys896Ser
ENST00000673772.1:c.2705G>C	ENSP00000501168.1:p.Cys902Ser
ENST00000673867.1:n.1086G>C
ENST00000674126.1:n.3302G>C
ENST00000674147.1:c.1874G>C	ENSP00000500964.1:p.Cys625Ser
ENST00000242839.8:c.2939G>C	ENSP00000242839.4:p.Cys980Ser
ENST00000344297.8:c.2318G>C	ENSP00000342559.5:p.Cys773Ser
ENST00000400366.5:c.2606G>C	ENSP00000383217.3:p.Cys869Ser
ENST00000400370.8:c.1649G>C	ENSP00000383221.3:p.Cys550Ser
ENST00000418097.7:c.2866-2114G>C	ENSP00000393343.2:n.2866-2114G>C
ENST00000448424.6:c.2705G>C	ENSP00000416738.2:p.Cys902Ser
ENST00000466629.1:n.159G>C
ENST00000634296.1:c.900G>C
ENST00000634308.1:c.*40G>C	ENSP00000489234.1:n.*40G>C
ENST00000634620.1:n.3683G>C
ENST00000634810.1:n.2284G>C
ENST00000634844.1:c.2795G>C	ENSP00000489398.1:p.Cys932Ser
ENST00000635406.1:n.285G>C
NM_000053.3:c.2939G>C	NP_000044.2:p.Cys980Ser
NM_001005918.2:c.2318G>C	NP_001005918.1:p.Cys773Ser
NM_001243182.1:c.2606G>C	NP_001230111.1:p.Cys869Ser
XM_005266423.2:c.2843G>C	XP_005266480.1:p.Cys948Ser
XM_005266424.3:c.2843G>C	XP_005266481.1:p.Cys948Ser
XM_005266427.2:c.2705G>C	XP_005266484.1:p.Cys902Ser
XM_005266428.1:c.2687G>C	XP_005266485.1:p.Cys896Ser
XM_005266430.3:c.2939G>C	XP_005266487.1:p.Cys980Ser
XM_005266431.2:c.2903G>C	XP_005266488.1:p.Cys968Ser
XM_005266432.2:c.2453G>C	XP_005266489.1:p.Cys818Ser
XM_006719837.2:c.2843G>C	XP_006719900.1:p.Cys948Ser
XM_006719838.1:c.755G>C	XP_006719901.1:p.Cys252Ser
XM_006719839.1:c.755G>C	XP_006719902.1:p.Cys252Ser
XM_011535117.1:c.2843G>C	XP_011533419.1:p.Cys948Ser
XM_011535118.1:c.2804G>C	XP_011533420.1:p.Cys935Ser
XM_011535119.1:c.2939G>C	XP_011533421.1:p.Cys980Ser
XM_011535120.1:c.2525G>C	XP_011533422.1:p.Cys842Ser
XM_011535121.1:c.2730+3602G>C	XP_011533423.1:n.2730+3602G>C
XM_011535122.1:c.1607G>C	XP_011533424.1:p.Cys536Ser
XR_941601.1:n.3158G>C
XR_941602.1:n.3158G>C
XR_941603.1:n.3158G>C
XR_941604.1:n.3158G>C
NM_001330578.1:c.2705G>C	NP_001317507.1:p.Cys902Ser
NM_001330579.1:c.2687G>C	NP_001317508.1:p.Cys896Ser
XM_005266424.4:c.2843G>C	XP_005266481.1:p.Cys948Ser
XM_005266430.4:c.2939G>C	XP_005266487.1:p.Cys980Ser
XM_005266431.4:c.2903G>C	XP_005266488.1:p.Cys968Ser
XM_006719837.3:c.2843G>C	XP_006719900.1:p.Cys948Ser
XM_011535117.3:c.2843G>C	XP_011533419.1:p.Cys948Ser
XM_017020627.1:c.2843G>C	XP_016876116.1:p.Cys948Ser
NM_000053.4:c.2939G>C MANE Select	NP_000044.2:p.Cys980Ser
NM_001005918.3:c.2318G>C	NP_001005918.1:p.Cys773Ser
NM_001330579.2:c.2687G>C	NP_001317508.1:p.Cys896Ser
NM_001243182.2:c.2606G>C	NP_001230111.1:p.Cys869Ser
NM_001330578.2:c.2705G>C	NP_001317507.1:p.Cys902Ser