Canonical Allele Identifier: CA456465393

Gene: CYP51A1 LRRD1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92113288A>T , CM000669.2:g.92113288A>T	GRCh38
NC_000007.13:g.91742602A>T , CM000669.1:g.91742602A>T	GRCh37
NC_000007.12:g.91580538A>T	NCBI36
NG_007968.1:g.26239T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691309.1:c.1351+3756T>A (CYP51A1)	ENSP00000510368.1:n.1351+3756T>A
ENST00000692281.1:c.*377T>A	ENSP00000510568.1:n.*377T>A
ENST00000693096.1:n.5996T>A
ENST00000003100.13:c.*377T>A (CYP51A1) MANE Select	ENSP00000003100.8:n.*377T>A
ENST00000003100.12:c.*377T>A (CYP51A1)	ENSP00000003100.8:n.*377T>A
ENST00000422722.1:n.2382T>A (LRRD1)
NM_000786.3:c.*377T>A (CYP51A1)	NP_000777.1:n.*377T>A
NM_001146152.1:c.*377T>A (CYP51A1)	NP_001139624.1:n.*377T>A
NM_000786.4:c.*377T>A (CYP51A1) MANE Select	NP_000777.1:n.*377T>A
NM_001146152.2:c.*377T>A (CYP51A1)	NP_001139624.1:n.*377T>A