Canonical Allele Identifier: CA491195442

Gene: CYP11A1

Linked Data

• MyVariant Identifiers: chr15:g.74640249G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74347908G>C , CM000677.2:g.74347908G>C	GRCh38
NC_000015.9:g.74640249G>C , CM000677.1:g.74640249G>C	GRCh37
NC_000015.8:g.72427302G>C	NCBI36
NG_007973.1:g.24834C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000268053.11:c.417C>G MANE Select	ENSP00000268053.6:p.Val139=
ENST00000268053.10:c.417C>G	ENSP00000268053.6:p.Val139=
ENST00000358632.8:c.-58C>G	ENSP00000351455.4:n.-58C>G
ENST00000416978.1:c.417C>G	ENSP00000388018.1:p.Val139=
ENST00000435365.5:c.417C>G	ENSP00000391081.1:p.Val139=
ENST00000450547.1:c.-58C>G	ENSP00000402064.1:n.-58C>G
ENST00000466978.1:n.811C>G
ENST00000566674.5:c.-58C>G	ENSP00000456941.1:n.-58C>G
ENST00000569662.1:c.-49-2665C>G	ENSP00000456598.1:n.-49-2665C>G
NM_000781.2:c.417C>G	NP_000772.2:p.Val139=
NM_001099773.1:c.-58C>G	NP_001093243.1:n.-58C>G
NM_000781.3:c.417C>G MANE Select	NP_000772.2:p.Val139=
NM_001099773.2:c.-58C>G	NP_001093243.1:n.-58C>G