Canonical Allele Identifier: CA393146945

Gene: CYP11A1

Linked Data

• MyVariant Identifiers: chr15:g.74631931A>C (hg19) ; chr15:g.74339590A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74339590A>C , CM000677.2:g.74339590A>C	GRCh38
NC_000015.9:g.74631931A>C , CM000677.1:g.74631931A>C	GRCh37
NC_000015.8:g.72418984A>C	NCBI36
NG_007973.1:g.33152T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000268053.11:c.1154T>G MANE Select	ENSP00000268053.6:p.Leu385Arg
ENST00000268053.10:c.1154T>G	ENSP00000268053.6:p.Leu385Arg
ENST00000358632.8:c.680T>G	ENSP00000351455.4:p.Leu227Arg
ENST00000435365.5:c.1154T>G	ENSP00000391081.1:p.Leu385Arg
ENST00000566674.5:c.680T>G	ENSP00000456941.1:p.Leu227Arg
NM_000781.2:c.1154T>G	NP_000772.2:p.Leu385Arg
NM_001099773.1:c.680T>G	NP_001093243.1:p.Leu227Arg
NM_000781.3:c.1154T>G MANE Select	NP_000772.2:p.Leu385Arg
NM_001099773.2:c.680T>G	NP_001093243.1:p.Leu227Arg