Canonical Allele Identifier: CA399478633

Gene: HAP1

Linked Data

• MyVariant Identifiers: chr17:g.39883313A>C (hg19) ; chr17:g.41727061A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727061A>C , CM000679.2:g.41727061A>C	GRCh38
NC_000017.10:g.39883313A>C , CM000679.1:g.39883313A>C	GRCh37
NC_000017.9:g.37136839A>C	NCBI36
NG_009090.2:g.64652T>G , LRG_401:g.64652T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347901.9:c.1359T>G MANE Select	ENSP00000334002.4:p.Phe453Leu
ENST00000310778.5:c.1515T>G	ENSP00000309392.5:p.Phe505Leu
ENST00000341193.9:c.1308T>G	ENSP00000343170.5:p.Phe436Leu
ENST00000347901.8:c.1359T>G	ENSP00000334002.4:p.Phe453Leu
ENST00000393939.6:c.1284T>G	ENSP00000377513.2:p.Phe428Leu
NM_001079870.1:c.1308T>G	NP_001073339.1:p.Phe436Leu
NM_001079871.1:c.1284T>G	NP_001073340.1:p.Phe428Leu
NM_177977.2:c.1359T>G	NP_817084.2:p.Phe453Leu
NM_001367459.1:c.1455T>G	NP_001354388.1:p.Phe485Leu
NM_001367460.1:c.1419T>G	NP_001354389.1:p.Phe473Leu
NM_001367461.1:c.1284T>G	NP_001354390.1:p.Phe428Leu
NM_001367462.1:c.1284T>G	NP_001354391.1:p.Phe428Leu
NM_177977.3:c.1359T>G MANE Select	NP_817084.2:p.Phe453Leu