Canonical Allele Identifier: CA393147039

Gene: CYP11A1

Linked Data

• MyVariant Identifiers: chr15:g.74631975C>G (hg19) ; chr15:g.74339634C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74339634C>G , CM000677.2:g.74339634C>G	GRCh38
NC_000015.9:g.74631975C>G , CM000677.1:g.74631975C>G	GRCh37
NC_000015.8:g.72419028C>G	NCBI36
NG_007973.1:g.33108G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.1110G>C MANE Select	ENSP00000268053.6:p.Met370Ile
ENST00000268053.10:c.1110G>C	ENSP00000268053.6:p.Met370Ile
ENST00000358632.8:c.636G>C	ENSP00000351455.4:p.Met212Ile
ENST00000435365.5:c.1110G>C	ENSP00000391081.1:p.Met370Ile
ENST00000566674.5:c.636G>C	ENSP00000456941.1:p.Met212Ile
NM_000781.2:c.1110G>C	NP_000772.2:p.Met370Ile
NM_001099773.1:c.636G>C	NP_001093243.1:p.Met212Ile
NM_000781.3:c.1110G>C MANE Select	NP_000772.2:p.Met370Ile
NM_001099773.2:c.636G>C	NP_001093243.1:p.Met212Ile