Canonical Allele Identifier: CA713587579

Gene: CYP19A1 PIRC66

Linked Data

• dbSNP Id: rs1397203665
• gnomAD v3: 15-51321294-C-CCA
• gnomAD v4: 15-51321294-C-CCA
• MyVariant Identifiers: chr15:g.51613491_51613492insCA (hg19) ; chr15:g.51321294_51321295insCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.51321296_51321297dup , CM000677.2:g.51321296_51321297dup	GRCh38
NC_000015.9:g.51613493_51613494dup , CM000677.1:g.51613493_51613494dup	GRCh37
NC_000015.8:g.49400785_49400786dup	NCBI36
NG_007982.1:g.22303_22304dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396402.6:c.-39+17199_-39+17200dup (CYP19A1) MANE Select	ENSP00000379683.1:n.-39+17199_-39+17200dup
ENST00000260433.6:c.-39+2520_-39+2521dup (CYP19A1)	ENSP00000260433.2:n.-39+2520_-39+2521dup
ENST00000396402.5:c.-39+17199_-39+17200dup (CYP19A1)	ENSP00000379683.1:n.-39+17199_-39+17200dup
ENST00000396404.8:c.-39+2520_-39+2521dup (CYP19A1)	ENSP00000379685.4:n.-39+2520_-39+2521dup
ENST00000405011.6:c.-194+17199_-194+17200dup (CYP19A1)	ENSP00000384389.2:n.-194+17199_-194+17200dup
ENST00000439712.6:c.-283+17199_-283+17200dup (CYP19A1)	ENSP00000390614.2:n.-283+17199_-283+17200dup
ENST00000453807.6:c.-230+17199_-230+17200dup (CYP19A1)	ENSP00000391139.2:n.-230+17199_-230+17200dup
ENST00000492852.1:n.88-923_88-922dup (CYP19A1)
ENST00000557858.5:c.-39+17199_-39+17200dup (CYP19A1)	ENSP00000452627.1:n.-39+17199_-39+17200dup
ENST00000557934.5:c.-39+17199_-39+17200dup (CYP19A1)	ENSP00000454004.1:n.-39+17199_-39+17200dup
ENST00000558328.5:c.-39+17141_-39+17142dup (CYP19A1)	ENSP00000453280.1:n.-39+17141_-39+17142dup
ENST00000559980.5:c.-283+16522_-283+16523dup (CYP19A1)	ENSP00000452872.1:n.-283+16522_-283+16523dup
ENST00000561075.5:c.-39+17199_-39+17200dup (CYP19A1)	ENSP00000454039.1:n.-39+17199_-39+17200dup
NM_000103.3:c.-39+17199_-39+17200dup (CYP19A1)	NP_000094.2:n.-39+17199_-39+17200dup
NM_031226.2:c.-39+2520_-39+2521dup (CYP19A1)	NP_112503.1:n.-39+2520_-39+2521dup
XR_932224.1:n.3308+257_3308+258dup (PIRC66)
XR_932226.1:n.2601+257_2601+258dup (PIRC66)
XR_932229.1:n.6085+257_6085+258dup (PIRC66)
XR_932230.1:n.384+257_384+258dup (PIRC66)
NM_001347248.1:c.-39+2520_-39+2521dup (CYP19A1)	NP_001334177.1:n.-39+2520_-39+2521dup
XR_002957708.1:n.364+257_364+258dup
NM_000103.4:c.-39+17199_-39+17200dup (CYP19A1) MANE Select	NP_000094.2:n.-39+17199_-39+17200dup
NM_031226.3:c.-39+2520_-39+2521dup (CYP19A1)	NP_112503.1:n.-39+2520_-39+2521dup