Canonical Allele Identifier: CA003318

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55441
• ClinVar RCV Id: RCV000048839 ; RCV000077606 ; RCV000214443 ; RCV000236284 ; RCV001354040 ; RCV002490620
• dbSNP Id: rs80357104
• gnomAD v4: 17-43063361-G-A
• COSMIC: COSM4841585 ; COSM4841586
• MyVariant Identifiers: chr17:g.41215378G>A (hg19) ; chr17:g.43063361G>A (hg38)
• PubMed: PMID:12496477 ; PMID:15172985 ; PMID:15385441 ; PMID:16267036 ; PMID:17305420 ; PMID:20516115 ; PMID:22476429 ; PMID:23704879 ; PMID:25085752 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063361G>A , CM000679.2:g.43063361G>A	GRCh38
NC_000017.10:g.41215378G>A , CM000679.1:g.41215378G>A	GRCh37
NC_000017.9:g.38468904G>A	NCBI36
NG_005905.2:g.154623C>T , LRG_292:g.154623C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5162C>T	ENSP00000417241.2:p.Ser1721Phe
ENST00000470026.6:c.5165C>T	ENSP00000419274.2:p.Ser1722Phe
ENST00000473961.6:c.5039C>T	ENSP00000420201.2:p.Ser1680Phe
ENST00000476777.6:c.5159C>T	ENSP00000417554.2:p.Ser1720Phe
ENST00000477152.6:c.5087C>T	ENSP00000419988.2:p.Ser1696Phe
ENST00000478531.6:c.1853C>T	ENSP00000420412.2:p.Ser618Phe
ENST00000489037.2:c.5087C>T	ENSP00000420781.2:p.Ser1696Phe
ENST00000493919.6:c.1715C>T	ENSP00000418819.2:p.Ser572Phe
ENST00000494123.6:c.5165C>T	ENSP00000419103.2:p.Ser1722Phe
ENST00000497488.2:c.4277C>T	ENSP00000418986.2:p.Ser1426Phe
ENST00000618469.2:c.5165C>T	ENSP00000478114.2:p.Ser1722Phe
ENST00000634433.2:c.5042C>T	ENSP00000489431.2:p.Ser1681Phe
ENST00000644379.2:c.5231C>T	ENSP00000496570.2:p.Ser1744Phe
ENST00000644555.2:c.1715C>T	ENSP00000494614.2:p.Ser572Phe
ENST00000652672.2:c.5024C>T	ENSP00000498906.2:p.Ser1675Phe
ENST00000484087.6:c.1727C>T	ENSP00000419481.2:p.Ser576Phe
ENST00000357654.9:c.5165C>T MANE Select	ENSP00000350283.3:p.Ser1722Phe
ENST00000471181.7:c.5228C>T	ENSP00000418960.2:p.Ser1743Phe
ENST00000644379.1:c.1552C>T
ENST00000352993.7:c.1739C>T	ENSP00000312236.5:p.Ser580Phe
ENST00000357654.7:c.5165C>T	ENSP00000350283.3:p.Ser1722Phe
ENST00000461221.5:c.*4948C>T	ENSP00000418548.1:n.*4948C>T
ENST00000468300.5:c.1853C>T	ENSP00000417148.1:p.Ser618Phe
ENST00000471181.6:c.5228C>T	ENSP00000418960.2:p.Ser1743Phe
ENST00000478531.5:c.1853C>T	ENSP00000420412.1:p.Ser618Phe
ENST00000484087.5:c.1478C>T	ENSP00000419481.1:p.Ser493Phe
ENST00000491747.6:c.1853C>T	ENSP00000420705.2:p.Ser618Phe
ENST00000493795.5:c.5024C>T	ENSP00000418775.1:p.Ser1675Phe
ENST00000493919.5:c.1715C>T	ENSP00000418819.1:p.Ser572Phe
ENST00000586385.5:c.95C>T	ENSP00000465818.1:p.Ser32Phe
ENST00000591534.5:c.638C>T	ENSP00000467329.1:p.Ser213Phe
ENST00000591849.5:c.-98-13171C>T	ENSP00000465347.1:n.-98-13171C>T
NM_007294.3:c.5165C>T , LRG_292t1:c.5165C>T	NP_009225.1:p.Ser1722Phe
NM_007297.3:c.5024C>T	NP_009228.2:p.Ser1675Phe
NM_007298.3:c.1853C>T	NP_009229.2:p.Ser618Phe
NM_007299.3:c.1853C>T	NP_009230.2:p.Ser618Phe
NM_007300.3:c.5228C>T	NP_009231.2:p.Ser1743Phe
NR_027676.1:n.5301C>T
NM_007294.4:c.5165C>T MANE Select	NP_009225.1:p.Ser1722Phe
NM_007297.4:c.5024C>T	NP_009228.2:p.Ser1675Phe
NM_007299.4:c.1853C>T	NP_009230.2:p.Ser618Phe
NM_007300.4:c.5228C>T	NP_009231.2:p.Ser1743Phe
NR_027676.2:n.5342C>T