Canonical Allele Identifier: CA393150327

Gene: CYP11A1

Linked Data

• MyVariant Identifiers: chr15:g.74640330C>G (hg19) ; chr15:g.74347989C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74347989C>G , CM000677.2:g.74347989C>G	GRCh38
NC_000015.9:g.74640330C>G , CM000677.1:g.74640330C>G	GRCh37
NC_000015.8:g.72427383C>G	NCBI36
NG_007973.1:g.24753G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.336G>C MANE Select	ENSP00000268053.6:p.Lys112Asn
ENST00000268053.10:c.336G>C	ENSP00000268053.6:p.Lys112Asn
ENST00000358632.8:c.-139G>C	ENSP00000351455.4:n.-139G>C
ENST00000416978.1:c.336G>C	ENSP00000388018.1:p.Lys112Asn
ENST00000435365.5:c.336G>C	ENSP00000391081.1:p.Lys112Asn
ENST00000450547.1:c.-139G>C	ENSP00000402064.1:n.-139G>C
ENST00000466978.1:n.730G>C
ENST00000566674.5:c.-139G>C	ENSP00000456941.1:n.-139G>C
ENST00000569662.1:c.-49-2746G>C	ENSP00000456598.1:n.-49-2746G>C
NM_000781.2:c.336G>C	NP_000772.2:p.Lys112Asn
NM_001099773.1:c.-139G>C	NP_001093243.1:n.-139G>C
NM_000781.3:c.336G>C MANE Select	NP_000772.2:p.Lys112Asn
NM_001099773.2:c.-139G>C	NP_001093243.1:n.-139G>C