Canonical Allele Identifier: CA127240

Gene: CYP11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74347903A>C , CM000677.2:g.74347903A>C	GRCh38
NC_000015.9:g.74640244A>C , CM000677.1:g.74640244A>C	GRCh37
NC_000015.8:g.72427297A>C	NCBI36
NG_007973.1:g.24839T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000781.3:c.422T>G MANE Select	NP_000772.2:p.Leu141Trp
ENST00000268053.11:c.422T>G MANE Select	ENSP00000268053.6:p.Leu141Trp
NM_000781.2:c.422T>G	NP_000772.2:p.Leu141Trp
NM_001099773.1:c.-53T>G	NP_001093243.1:n.-53T>G
NM_001099773.2:c.-53T>G	NP_001093243.1:n.-53T>G
ENST00000268053.10:c.422T>G	ENSP00000268053.6:p.Leu141Trp
ENST00000358632.8:c.-53T>G	ENSP00000351455.4:n.-53T>G
ENST00000416978.1:c.422T>G	ENSP00000388018.1:p.Leu141Trp
ENST00000435365.5:c.422T>G	ENSP00000391081.1:p.Leu141Trp
ENST00000450547.1:c.-53T>G	ENSP00000402064.1:n.-53T>G
ENST00000466978.1:n.816T>G
ENST00000566674.5:c.-53T>G	ENSP00000456941.1:n.-53T>G
ENST00000569662.1:c.-49-2660T>G	ENSP00000456598.1:n.-49-2660T>G