Canonical Allele Identifier: CA393150209

Gene: CYP11A1

Linked Data

• ClinVar Variation Id: 930031
• ClinVar RCV Id: RCV001195422
• dbSNP Id: rs2060639501
• MyVariant Identifiers: chr15:g.74640275G>A (hg19) ; chr15:g.74347934G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74347934G>A , CM000677.2:g.74347934G>A	GRCh38
NC_000015.9:g.74640275G>A , CM000677.1:g.74640275G>A	GRCh37
NC_000015.8:g.72427328G>A	NCBI36
NG_007973.1:g.24808C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.391C>T MANE Select	ENSP00000268053.6:p.Gln131Ter
ENST00000268053.10:c.391C>T	ENSP00000268053.6:p.Gln131Ter
ENST00000358632.8:c.-84C>T	ENSP00000351455.4:n.-84C>T
ENST00000416978.1:c.391C>T	ENSP00000388018.1:p.Gln131Ter
ENST00000435365.5:c.391C>T	ENSP00000391081.1:p.Gln131Ter
ENST00000450547.1:c.-84C>T	ENSP00000402064.1:n.-84C>T
ENST00000466978.1:n.785C>T
ENST00000566674.5:c.-84C>T	ENSP00000456941.1:n.-84C>T
ENST00000569662.1:c.-49-2691C>T	ENSP00000456598.1:n.-49-2691C>T
NM_000781.2:c.391C>T	NP_000772.2:p.Gln131Ter
NM_001099773.1:c.-84C>T	NP_001093243.1:n.-84C>T
NM_000781.3:c.391C>T MANE Select	NP_000772.2:p.Gln131Ter
NM_001099773.2:c.-84C>T	NP_001093243.1:n.-84C>T