Canonical Allele Identifier: CA388015353

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52524288A>C (hg19) ; chr13:g.51950152A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950152A>C , CM000675.2:g.51950152A>C	GRCh38
NC_000013.10:g.52524288A>C , CM000675.1:g.52524288A>C	GRCh37
NC_000013.9:g.51422289A>C	NCBI36
NG_008806.1:g.66343T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*418T>G	ENSP00000489512.2:n.*418T>G
ENST00000673864.2:c.*1329T>G	ENSP00000501045.2:n.*1329T>G
ENST00000674147.2:c.2099T>G	ENSP00000500964.2:p.Met700Arg
ENST00000242839.10:c.2585T>G MANE Select	ENSP00000242839.5:p.Met862Arg
ENST00000344297.9:c.2099T>G	ENSP00000342559.5:p.Met700Arg
ENST00000400366.6:c.2252T>G	ENSP00000383217.3:p.Met751Arg
ENST00000448424.7:c.2333T>G	ENSP00000416738.3:p.Met778Arg
ENST00000673772.1:c.2351T>G	ENSP00000501168.1:p.Met784Arg
ENST00000674147.1:c.1655T>G	ENSP00000500964.1:p.Met552Arg
ENST00000242839.8:c.2585T>G	ENSP00000242839.4:p.Met862Arg
ENST00000344297.8:c.2099T>G	ENSP00000342559.5:p.Met700Arg
ENST00000400366.5:c.2252T>G	ENSP00000383217.3:p.Met751Arg
ENST00000400370.8:c.1295T>G	ENSP00000383221.3:p.Met432Arg
ENST00000418097.7:c.2585T>G	ENSP00000393343.2:p.Met862Arg
ENST00000448424.6:c.2351T>G	ENSP00000416738.2:p.Met784Arg
ENST00000634296.1:c.546T>G
ENST00000634308.1:c.2351T>G	ENSP00000489234.1:p.Met784Arg
ENST00000634620.1:n.3383T>G
ENST00000634810.1:n.1930T>G
ENST00000634844.1:c.2441T>G	ENSP00000489398.1:p.Met814Arg
ENST00000635406.1:n.212-3674T>G
NM_000053.3:c.2585T>G	NP_000044.2:p.Met862Arg
NM_001005918.2:c.2099T>G	NP_001005918.1:p.Met700Arg
NM_001243182.1:c.2252T>G	NP_001230111.1:p.Met751Arg
XM_005266423.2:c.2489T>G	XP_005266480.1:p.Met830Arg
XM_005266424.3:c.2489T>G	XP_005266481.1:p.Met830Arg
XM_005266427.2:c.2351T>G	XP_005266484.1:p.Met784Arg
XM_005266428.1:c.2333T>G	XP_005266485.1:p.Met778Arg
XM_005266430.3:c.2585T>G	XP_005266487.1:p.Met862Arg
XM_005266431.2:c.2549T>G	XP_005266488.1:p.Met850Arg
XM_005266432.2:c.2099T>G	XP_005266489.1:p.Met700Arg
XM_006719837.2:c.2489T>G	XP_006719900.1:p.Met830Arg
XM_006719838.1:c.401T>G	XP_006719901.1:p.Met134Arg
XM_006719839.1:c.401T>G	XP_006719902.1:p.Met134Arg
XM_011535117.1:c.2489T>G	XP_011533419.1:p.Met830Arg
XM_011535118.1:c.2585T>G	XP_011533420.1:p.Met862Arg
XM_011535119.1:c.2585T>G	XP_011533421.1:p.Met862Arg
XM_011535120.1:c.2171T>G	XP_011533422.1:p.Met724Arg
XM_011535121.1:c.2585T>G	XP_011533423.1:p.Met862Arg
XM_011535122.1:c.1253T>G	XP_011533424.1:p.Met418Arg
XR_941601.1:n.2804T>G
XR_941602.1:n.2804T>G
XR_941603.1:n.2804T>G
XR_941604.1:n.2804T>G
NM_001330578.1:c.2351T>G	NP_001317507.1:p.Met784Arg
NM_001330579.1:c.2333T>G	NP_001317508.1:p.Met778Arg
XM_005266424.4:c.2489T>G	XP_005266481.1:p.Met830Arg
XM_005266430.4:c.2585T>G	XP_005266487.1:p.Met862Arg
XM_005266431.4:c.2549T>G	XP_005266488.1:p.Met850Arg
XM_006719837.3:c.2489T>G	XP_006719900.1:p.Met830Arg
XM_011535117.3:c.2489T>G	XP_011533419.1:p.Met830Arg
XM_017020627.1:c.2489T>G	XP_016876116.1:p.Met830Arg
NM_000053.4:c.2585T>G MANE Select	NP_000044.2:p.Met862Arg
NM_001005918.3:c.2099T>G	NP_001005918.1:p.Met700Arg
NM_001330579.2:c.2333T>G	NP_001317508.1:p.Met778Arg
NM_001243182.2:c.2252T>G	NP_001230111.1:p.Met751Arg
NM_001330578.2:c.2351T>G	NP_001317507.1:p.Met784Arg