Canonical Allele Identifier: CA002389

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54979
• ClinVar RCV Id: RCV000048302 ; RCV000130833 ; RCV000112164 ; RCV002228165 ; RCV001719802
• dbSNP Id: rs80357143
• gnomAD v4: 17-43091809-G-T
• MyVariant Identifiers: chr17:g.41243826G>T (hg19) ; chr17:g.43091809G>T (hg38)
• PubMed: PMID:10923033 ; PMID:15385441 ; PMID:16267036 ; PMID:17100994 ; PMID:25722345

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091809G>T , CM000679.2:g.43091809G>T	GRCh38
NC_000017.10:g.41243826G>T , CM000679.1:g.41243826G>T	GRCh37
NC_000017.9:g.38497352G>T	NCBI36
NG_005905.2:g.126175C>A , LRG_292:g.126175C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3786C>A
ENST00000461574.2:c.3722C>A	ENSP00000417241.2:p.Ser1241Tyr
ENST00000470026.6:c.3722C>A	ENSP00000419274.2:p.Ser1241Tyr
ENST00000473961.6:c.3596C>A	ENSP00000420201.2:p.Ser1199Tyr
ENST00000476777.6:c.3719C>A	ENSP00000417554.2:p.Ser1240Tyr
ENST00000477152.6:c.3644C>A	ENSP00000419988.2:p.Ser1215Tyr
ENST00000478531.6:c.785-777C>A	ENSP00000420412.2:n.785-777C>A
ENST00000489037.2:c.3644C>A	ENSP00000420781.2:p.Ser1215Tyr
ENST00000493919.6:c.647-777C>A	ENSP00000418819.2:n.647-777C>A
ENST00000494123.6:c.3722C>A	ENSP00000419103.2:p.Ser1241Tyr
ENST00000497488.2:c.2834C>A	ENSP00000418986.2:p.Ser945Tyr
ENST00000618469.2:c.3722C>A	ENSP00000478114.2:p.Ser1241Tyr
ENST00000634433.2:c.3599C>A	ENSP00000489431.2:p.Ser1200Tyr
ENST00000644379.2:c.3722C>A	ENSP00000496570.2:p.Ser1241Tyr
ENST00000644555.2:c.647-777C>A	ENSP00000494614.2:n.647-777C>A
ENST00000652672.2:c.3581C>A	ENSP00000498906.2:p.Ser1194Tyr
ENST00000484087.6:c.665-777C>A	ENSP00000419481.2:n.665-777C>A
ENST00000700182.1:c.707-777C>A	ENSP00000514849.1:n.707-777C>A
ENST00000357654.9:c.3722C>A MANE Select	ENSP00000350283.3:p.Ser1241Tyr
ENST00000471181.7:c.3722C>A	ENSP00000418960.2:p.Ser1241Tyr
ENST00000644379.1:c.43C>A
ENST00000352993.7:c.671-777C>A	ENSP00000312236.5:n.671-777C>A
ENST00000354071.7:c.3722C>A	ENSP00000326002.7:p.Ser1241Tyr
ENST00000357654.7:c.3722C>A	ENSP00000350283.3:p.Ser1241Tyr
ENST00000461221.5:c.*3505C>A	ENSP00000418548.1:n.*3505C>A
ENST00000461574.1:c.16C>A
ENST00000468300.5:c.788-777C>A	ENSP00000417148.1:n.788-777C>A
ENST00000471181.6:c.3722C>A	ENSP00000418960.2:p.Ser1241Tyr
ENST00000478531.5:c.785-777C>A	ENSP00000420412.1:n.785-777C>A
ENST00000484087.5:c.410-777C>A	ENSP00000419481.1:n.410-777C>A
ENST00000487825.5:c.413-777C>A	ENSP00000418212.1:n.413-777C>A
ENST00000491747.6:c.788-777C>A	ENSP00000420705.2:n.788-777C>A
ENST00000493795.5:c.3581C>A	ENSP00000418775.1:p.Ser1194Tyr
ENST00000493919.5:c.647-777C>A	ENSP00000418819.1:n.647-777C>A
ENST00000586385.5:c.5-27858C>A	ENSP00000465818.1:n.5-27858C>A
ENST00000591534.5:c.-43-17288C>A	ENSP00000467329.1:n.-43-17288C>A
ENST00000591849.5:c.-99+33462C>A	ENSP00000465347.1:n.-99+33462C>A
NM_007294.3:c.3722C>A , LRG_292t1:c.3722C>A	NP_009225.1:p.Ser1241Tyr
NM_007297.3:c.3581C>A	NP_009228.2:p.Ser1194Tyr
NM_007298.3:c.788-777C>A	NP_009229.2:n.788-777C>A
NM_007299.3:c.788-777C>A	NP_009230.2:n.788-777C>A
NM_007300.3:c.3722C>A	NP_009231.2:p.Ser1241Tyr
NR_027676.1:n.3858C>A
NM_007294.4:c.3722C>A MANE Select	NP_009225.1:p.Ser1241Tyr
NM_007297.4:c.3581C>A	NP_009228.2:p.Ser1194Tyr
NM_007299.4:c.788-777C>A	NP_009230.2:n.788-777C>A
NM_007300.4:c.3722C>A	NP_009231.2:p.Ser1241Tyr
NR_027676.2:n.3899C>A