Canonical Allele Identifier: CA399478924

Gene: HAP1

Linked Data

• gnomAD v4: 17-41727104-A-G
• MyVariant Identifiers: chr17:g.39883356A>G (hg19) ; chr17:g.41727104A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727104A>G , CM000679.2:g.41727104A>G	GRCh38
NC_000017.10:g.39883356A>G , CM000679.1:g.39883356A>G	GRCh37
NC_000017.9:g.37136882A>G	NCBI36
NG_009090.2:g.64609T>C , LRG_401:g.64609T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347901.9:c.1316T>C MANE Select	ENSP00000334002.4:p.Leu439Pro
ENST00000310778.5:c.1472T>C	ENSP00000309392.5:p.Leu491Pro
ENST00000341193.9:c.1265T>C	ENSP00000343170.5:p.Leu422Pro
ENST00000347901.8:c.1316T>C	ENSP00000334002.4:p.Leu439Pro
ENST00000393939.6:c.1241T>C	ENSP00000377513.2:p.Leu414Pro
NM_001079870.1:c.1265T>C	NP_001073339.1:p.Leu422Pro
NM_001079871.1:c.1241T>C	NP_001073340.1:p.Leu414Pro
NM_177977.2:c.1316T>C	NP_817084.2:p.Leu439Pro
NM_001367459.1:c.1412T>C	NP_001354388.1:p.Leu471Pro
NM_001367460.1:c.1376T>C	NP_001354389.1:p.Leu459Pro
NM_001367461.1:c.1241T>C	NP_001354390.1:p.Leu414Pro
NM_001367462.1:c.1241T>C	NP_001354391.1:p.Leu414Pro
NM_177977.3:c.1316T>C MANE Select	NP_817084.2:p.Leu439Pro