Canonical Allele Identifier: CA491195522

Gene: CYP11A1

Linked Data

• dbSNP Id: rs754916969
• gnomAD v2: 15-74640279-A-G
• gnomAD v4: 15-74347938-A-G
• MyVariant Identifiers: chr15:g.74640279A>G (hg19) ; chr15:g.74347938A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74347938A>G , CM000677.2:g.74347938A>G	GRCh38
NC_000015.9:g.74640279A>G , CM000677.1:g.74640279A>G	GRCh37
NC_000015.8:g.72427332A>G	NCBI36
NG_007973.1:g.24804T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.387T>C MANE Select	ENSP00000268053.6:p.Tyr129=
ENST00000268053.10:c.387T>C	ENSP00000268053.6:p.Tyr129=
ENST00000358632.8:c.-88T>C	ENSP00000351455.4:n.-88T>C
ENST00000416978.1:c.387T>C	ENSP00000388018.1:p.Tyr129=
ENST00000435365.5:c.387T>C	ENSP00000391081.1:p.Tyr129=
ENST00000450547.1:c.-88T>C	ENSP00000402064.1:n.-88T>C
ENST00000466978.1:n.781T>C
ENST00000566674.5:c.-88T>C	ENSP00000456941.1:n.-88T>C
ENST00000569662.1:c.-49-2695T>C	ENSP00000456598.1:n.-49-2695T>C
NM_000781.2:c.387T>C	NP_000772.2:p.Tyr129=
NM_001099773.1:c.-88T>C	NP_001093243.1:n.-88T>C
NM_000781.3:c.387T>C MANE Select	NP_000772.2:p.Tyr129=
NM_001099773.2:c.-88T>C	NP_001093243.1:n.-88T>C