Canonical Allele Identifier: CA399478929

Gene: HAP1

Linked Data

• MyVariant Identifiers: chr17:g.39883357G>C (hg19) ; chr17:g.41727105G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727105G>C , CM000679.2:g.41727105G>C	GRCh38
NC_000017.10:g.39883357G>C , CM000679.1:g.39883357G>C	GRCh37
NC_000017.9:g.37136883G>C	NCBI36
NG_009090.2:g.64608C>G , LRG_401:g.64608C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347901.9:c.1315C>G MANE Select	ENSP00000334002.4:p.Leu439Val
ENST00000310778.5:c.1471C>G	ENSP00000309392.5:p.Leu491Val
ENST00000341193.9:c.1264C>G	ENSP00000343170.5:p.Leu422Val
ENST00000347901.8:c.1315C>G	ENSP00000334002.4:p.Leu439Val
ENST00000393939.6:c.1240C>G	ENSP00000377513.2:p.Leu414Val
NM_001079870.1:c.1264C>G	NP_001073339.1:p.Leu422Val
NM_001079871.1:c.1240C>G	NP_001073340.1:p.Leu414Val
NM_177977.2:c.1315C>G	NP_817084.2:p.Leu439Val
NM_001367459.1:c.1411C>G	NP_001354388.1:p.Leu471Val
NM_001367460.1:c.1375C>G	NP_001354389.1:p.Leu459Val
NM_001367461.1:c.1240C>G	NP_001354390.1:p.Leu414Val
NM_001367462.1:c.1240C>G	NP_001354391.1:p.Leu414Val
NM_177977.3:c.1315C>G MANE Select	NP_817084.2:p.Leu439Val