Canonical Allele Identifier: CA12593027
Gene: CYP51A1 HGNC NCBI
LRRD1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.92113288A>G
GRCh37 chr7:g.91742602A>G
gnomAD v2:
7:91742602 A / G
gnomAD v3:
7:92113288 A / G
gnomAD v4:
chr7-92113288-A-G
Joint Max Group AF 0.44499755 (AFR)
Genomes Max Group AF 0.44523612 (AFR)
Exomes Max Group AF 0.32220773 (NFE)
dbSNP:
6465348
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Genomic Alleles

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

Transcript Alleles

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