Canonical Allele Identifier: CA393150128

Gene: CYP11A1

Linked Data

• gnomAD v4: 15-74347910-C-T
• MyVariant Identifiers: chr15:g.74640251C>T (hg19) ; chr15:g.74347910C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74347910C>T , CM000677.2:g.74347910C>T	GRCh38
NC_000015.9:g.74640251C>T , CM000677.1:g.74640251C>T	GRCh37
NC_000015.8:g.72427304C>T	NCBI36
NG_007973.1:g.24832G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000268053.11:c.415G>A MANE Select	ENSP00000268053.6:p.Val139Ile
ENST00000268053.10:c.415G>A	ENSP00000268053.6:p.Val139Ile
ENST00000358632.8:c.-60G>A	ENSP00000351455.4:n.-60G>A
ENST00000416978.1:c.415G>A	ENSP00000388018.1:p.Val139Ile
ENST00000435365.5:c.415G>A	ENSP00000391081.1:p.Val139Ile
ENST00000450547.1:c.-60G>A	ENSP00000402064.1:n.-60G>A
ENST00000466978.1:n.809G>A
ENST00000566674.5:c.-60G>A	ENSP00000456941.1:n.-60G>A
ENST00000569662.1:c.-49-2667G>A	ENSP00000456598.1:n.-49-2667G>A
NM_000781.2:c.415G>A	NP_000772.2:p.Val139Ile
NM_001099773.1:c.-60G>A	NP_001093243.1:n.-60G>A
NM_000781.3:c.415G>A MANE Select	NP_000772.2:p.Val139Ile
NM_001099773.2:c.-60G>A	NP_001093243.1:n.-60G>A