Canonical Allele Identifier: CA713587587

Gene: CYP19A1 PIRC66

Linked Data

• dbSNP Id: rs1200572009
• gnomAD v3: 15-51321315-C-G
• gnomAD v4: 15-51321315-C-G
• MyVariant Identifiers: chr15:g.51613512C>G (hg19) ; chr15:g.51321315C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.51321315C>G , CM000677.2:g.51321315C>G	GRCh38
NC_000015.9:g.51613512C>G , CM000677.1:g.51613512C>G	GRCh37
NC_000015.8:g.49400804C>G	NCBI36
NG_007982.1:g.22284G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396402.6:c.-39+17180G>C (CYP19A1) MANE Select	ENSP00000379683.1:n.-39+17180G>C
ENST00000260433.6:c.-39+2501G>C (CYP19A1)	ENSP00000260433.2:n.-39+2501G>C
ENST00000396402.5:c.-39+17180G>C (CYP19A1)	ENSP00000379683.1:n.-39+17180G>C
ENST00000396404.8:c.-39+2501G>C (CYP19A1)	ENSP00000379685.4:n.-39+2501G>C
ENST00000405011.6:c.-194+17180G>C (CYP19A1)	ENSP00000384389.2:n.-194+17180G>C
ENST00000439712.6:c.-283+17180G>C (CYP19A1)	ENSP00000390614.2:n.-283+17180G>C
ENST00000453807.6:c.-230+17180G>C (CYP19A1)	ENSP00000391139.2:n.-230+17180G>C
ENST00000492852.1:n.88-942G>C (CYP19A1)
ENST00000557858.5:c.-39+17180G>C (CYP19A1)	ENSP00000452627.1:n.-39+17180G>C
ENST00000557934.5:c.-39+17180G>C (CYP19A1)	ENSP00000454004.1:n.-39+17180G>C
ENST00000558328.5:c.-39+17122G>C (CYP19A1)	ENSP00000453280.1:n.-39+17122G>C
ENST00000559980.5:c.-283+16503G>C (CYP19A1)	ENSP00000452872.1:n.-283+16503G>C
ENST00000561075.5:c.-39+17180G>C (CYP19A1)	ENSP00000454039.1:n.-39+17180G>C
NM_000103.3:c.-39+17180G>C (CYP19A1)	NP_000094.2:n.-39+17180G>C
NM_031226.2:c.-39+2501G>C (CYP19A1)	NP_112503.1:n.-39+2501G>C
XR_932224.1:n.3308+276C>G (PIRC66)
XR_932226.1:n.2601+276C>G (PIRC66)
XR_932229.1:n.6085+276C>G (PIRC66)
XR_932230.1:n.384+276C>G (PIRC66)
NM_001347248.1:c.-39+2501G>C (CYP19A1)	NP_001334177.1:n.-39+2501G>C
XR_002957708.1:n.364+276C>G
NM_000103.4:c.-39+17180G>C (CYP19A1) MANE Select	NP_000094.2:n.-39+17180G>C
NM_031226.3:c.-39+2501G>C (CYP19A1)	NP_112503.1:n.-39+2501G>C