Canonical Allele Identifier: CA128509

Gene: CYP11A1

Linked Data

• ClinVar Variation Id: 29625
• ClinVar RCV Id: RCV000022465
• dbSNP Id: rs387906601
• MyVariant Identifiers: chr15:g.74636294A>G (hg19) ; chr15:g.74343953A>G (hg38)
• PubMed: PMID:19116240

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74343953A>G , CM000677.2:g.74343953A>G	GRCh38
NC_000015.9:g.74636294A>G , CM000677.1:g.74636294A>G	GRCh37
NC_000015.8:g.72423347A>G	NCBI36
NG_007973.1:g.28789T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.665T>C MANE Select	ENSP00000268053.6:p.Leu222Pro
ENST00000268053.10:c.665T>C	ENSP00000268053.6:p.Leu222Pro
ENST00000358632.8:c.191T>C	ENSP00000351455.4:p.Leu64Pro
ENST00000435365.5:c.665T>C	ENSP00000391081.1:p.Leu222Pro
ENST00000450547.1:c.191T>C	ENSP00000402064.1:p.Leu64Pro
ENST00000566674.5:c.191T>C	ENSP00000456941.1:p.Leu64Pro
NM_000781.2:c.665T>C	NP_000772.2:p.Leu222Pro
NM_001099773.1:c.191T>C	NP_001093243.1:p.Leu64Pro
NM_000781.3:c.665T>C MANE Select	NP_000772.2:p.Leu222Pro
NM_001099773.2:c.191T>C	NP_001093243.1:p.Leu64Pro