Canonical Allele Identifier: CA393147192

Gene: CYP11A1

Linked Data

• MyVariant Identifiers: chr15:g.74632048A>T (hg19) ; chr15:g.74339707A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74339707A>T , CM000677.2:g.74339707A>T	GRCh38
NC_000015.9:g.74632048A>T , CM000677.1:g.74632048A>T	GRCh37
NC_000015.8:g.72419101A>T	NCBI36
NG_007973.1:g.33035T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.1037T>A MANE Select	ENSP00000268053.6:p.Leu346Gln
ENST00000268053.10:c.1037T>A	ENSP00000268053.6:p.Leu346Gln
ENST00000358632.8:c.563T>A	ENSP00000351455.4:p.Leu188Gln
ENST00000435365.5:c.1037T>A	ENSP00000391081.1:p.Leu346Gln
ENST00000566674.5:c.563T>A	ENSP00000456941.1:p.Leu188Gln
NM_000781.2:c.1037T>A	NP_000772.2:p.Leu346Gln
NM_001099773.1:c.563T>A	NP_001093243.1:p.Leu188Gln
NM_000781.3:c.1037T>A MANE Select	NP_000772.2:p.Leu346Gln
NM_001099773.2:c.563T>A	NP_001093243.1:p.Leu188Gln