Canonical Allele Identifier: CA388030328

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518369A>C (hg19) ; chr13:g.51944233A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944233A>C , CM000675.2:g.51944233A>C	GRCh38
NC_000013.10:g.52518369A>C , CM000675.1:g.52518369A>C	GRCh37
NC_000013.9:g.51416370A>C	NCBI36
NG_008806.1:g.72262T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1679T>G	ENSP00000489512.2:n.*894-1679T>G
ENST00000673864.2:c.*1863T>G	ENSP00000501045.2:n.*1863T>G
ENST00000674147.2:c.2498T>G	ENSP00000500964.2:p.Met833Arg
ENST00000242839.10:c.3119T>G MANE Select	ENSP00000242839.5:p.Met1040Arg
ENST00000344297.9:c.2498T>G	ENSP00000342559.5:p.Met833Arg
ENST00000400366.6:c.2786T>G	ENSP00000383217.3:p.Met929Arg
ENST00000448424.7:c.2867T>G	ENSP00000416738.3:p.Met956Arg
ENST00000673772.1:c.2885T>G	ENSP00000501168.1:p.Met962Arg
ENST00000673867.1:n.3258T>G
ENST00000674126.1:n.3482T>G
ENST00000674147.1:c.2054T>G	ENSP00000500964.1:p.Met685Arg
ENST00000242839.8:c.3119T>G	ENSP00000242839.4:p.Met1040Arg
ENST00000344297.8:c.2498T>G	ENSP00000342559.5:p.Met833Arg
ENST00000400366.5:c.2786T>G	ENSP00000383217.3:p.Met929Arg
ENST00000400370.8:c.1829T>G	ENSP00000383221.3:p.Met610Arg
ENST00000418097.7:c.2924T>G	ENSP00000393343.2:p.Met975Arg
ENST00000448424.6:c.2885T>G	ENSP00000416738.2:p.Met962Arg
ENST00000466629.1:n.339T>G
ENST00000634296.1:c.1022-1679T>G
ENST00000634308.1:c.*220T>G	ENSP00000489234.1:n.*220T>G
ENST00000634620.1:n.3863T>G
ENST00000634810.1:n.2464T>G
ENST00000634844.1:c.2975T>G	ENSP00000489398.1:p.Met992Arg
ENST00000635406.1:n.465T>G
NM_000053.3:c.3119T>G	NP_000044.2:p.Met1040Arg
NM_001005918.2:c.2498T>G	NP_001005918.1:p.Met833Arg
NM_001243182.1:c.2786T>G	NP_001230111.1:p.Met929Arg
XM_005266423.2:c.3023T>G	XP_005266480.1:p.Met1008Arg
XM_005266424.3:c.3023T>G	XP_005266481.1:p.Met1008Arg
XM_005266427.2:c.2885T>G	XP_005266484.1:p.Met962Arg
XM_005266428.1:c.2867T>G	XP_005266485.1:p.Met956Arg
XM_005266430.3:c.3119T>G	XP_005266487.1:p.Met1040Arg
XM_005266431.2:c.3083T>G	XP_005266488.1:p.Met1028Arg
XM_005266432.2:c.2633T>G	XP_005266489.1:p.Met878Arg
XM_006719837.2:c.3023T>G	XP_006719900.1:p.Met1008Arg
XM_006719838.1:c.935T>G	XP_006719901.1:p.Met312Arg
XM_006719839.1:c.877-1679T>G	XP_006719902.1:n.877-1679T>G
XM_011535117.1:c.3023T>G	XP_011533419.1:p.Met1008Arg
XM_011535118.1:c.2984T>G	XP_011533420.1:p.Met995Arg
XM_011535119.1:c.3061-1679T>G	XP_011533421.1:n.3061-1679T>G
XM_011535120.1:c.2705T>G	XP_011533422.1:p.Met902Arg
XM_011535121.1:c.2731-1679T>G	XP_011533423.1:n.2731-1679T>G
XM_011535122.1:c.1787T>G	XP_011533424.1:p.Met596Arg
XR_941601.1:n.3338T>G
XR_941602.1:n.3338T>G
XR_941603.1:n.3338T>G
XR_941604.1:n.3338T>G
NM_001330578.1:c.2885T>G	NP_001317507.1:p.Met962Arg
NM_001330579.1:c.2867T>G	NP_001317508.1:p.Met956Arg
XM_005266424.4:c.3023T>G	XP_005266481.1:p.Met1008Arg
XM_005266430.4:c.3119T>G	XP_005266487.1:p.Met1040Arg
XM_005266431.4:c.3083T>G	XP_005266488.1:p.Met1028Arg
XM_006719837.3:c.3023T>G	XP_006719900.1:p.Met1008Arg
XM_011535117.3:c.3023T>G	XP_011533419.1:p.Met1008Arg
XM_017020627.1:c.3023T>G	XP_016876116.1:p.Met1008Arg
NM_000053.4:c.3119T>G MANE Select	NP_000044.2:p.Met1040Arg
NM_001005918.3:c.2498T>G	NP_001005918.1:p.Met833Arg
NM_001330579.2:c.2867T>G	NP_001317508.1:p.Met956Arg
NM_001243182.2:c.2786T>G	NP_001230111.1:p.Met929Arg
NM_001330578.2:c.2885T>G	NP_001317507.1:p.Met962Arg