Canonical Allele Identifier: CA7656596

Gene: CYP11A1

Linked Data

• dbSNP Id: rs779931389
• ExAC: 15:74640256 A / T
• gnomAD v2: 15-74640256-A-T
• gnomAD v4: 15-74347915-A-T
• MyVariant Identifiers: chr15:g.74640256A>T (hg19) ; chr15:g.74347915A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74347915A>T , CM000677.2:g.74347915A>T	GRCh38
NC_000015.9:g.74640256A>T , CM000677.1:g.74640256A>T	GRCh37
NC_000015.8:g.72427309A>T	NCBI36
NG_007973.1:g.24827T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.410T>A MANE Select	ENSP00000268053.6:p.Ile137Lys
ENST00000268053.10:c.410T>A	ENSP00000268053.6:p.Ile137Lys
ENST00000358632.8:c.-65T>A	ENSP00000351455.4:n.-65T>A
ENST00000416978.1:c.410T>A	ENSP00000388018.1:p.Ile137Lys
ENST00000435365.5:c.410T>A	ENSP00000391081.1:p.Ile137Lys
ENST00000450547.1:c.-65T>A	ENSP00000402064.1:n.-65T>A
ENST00000466978.1:n.804T>A
ENST00000566674.5:c.-65T>A	ENSP00000456941.1:n.-65T>A
ENST00000569662.1:c.-49-2672T>A	ENSP00000456598.1:n.-49-2672T>A
NM_000781.2:c.410T>A	NP_000772.2:p.Ile137Lys
NM_001099773.1:c.-65T>A	NP_001093243.1:n.-65T>A
NM_000781.3:c.410T>A MANE Select	NP_000772.2:p.Ile137Lys
NM_001099773.2:c.-65T>A	NP_001093243.1:n.-65T>A