Canonical Allele Identifier: CA10591250

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868714
• ClinVar RCV Id: RCV001077666
• dbSNP Id: rs2051907296
• MyVariant Identifiers: chr17:g.41215894A>G (hg19) ; chr17:g.43063877A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063877A>G , CM000679.2:g.43063877A>G	GRCh38
NC_000017.10:g.41215894A>G , CM000679.1:g.41215894A>G	GRCh37
NC_000017.9:g.38469420A>G	NCBI36
NG_005905.2:g.154107T>C , LRG_292:g.154107T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5146T>C	ENSP00000417241.2:p.Phe1716Leu
ENST00000470026.6:c.5149T>C	ENSP00000419274.2:p.Phe1717Leu
ENST00000473961.6:c.5023T>C	ENSP00000420201.2:p.Phe1675Leu
ENST00000476777.6:c.5143T>C	ENSP00000417554.2:p.Phe1715Leu
ENST00000477152.6:c.5071T>C	ENSP00000419988.2:p.Phe1691Leu
ENST00000478531.6:c.1837T>C	ENSP00000420412.2:p.Phe613Leu
ENST00000489037.2:c.5071T>C	ENSP00000420781.2:p.Phe1691Leu
ENST00000493919.6:c.1699T>C	ENSP00000418819.2:p.Phe567Leu
ENST00000494123.6:c.5149T>C	ENSP00000419103.2:p.Phe1717Leu
ENST00000497488.2:c.4261T>C	ENSP00000418986.2:p.Phe1421Leu
ENST00000618469.2:c.5149T>C	ENSP00000478114.2:p.Phe1717Leu
ENST00000634433.2:c.5026T>C	ENSP00000489431.2:p.Phe1676Leu
ENST00000644379.2:c.5215T>C	ENSP00000496570.2:p.Phe1739Leu
ENST00000644555.2:c.1699T>C	ENSP00000494614.2:p.Phe567Leu
ENST00000652672.2:c.5008T>C	ENSP00000498906.2:p.Phe1670Leu
ENST00000484087.6:c.1711T>C	ENSP00000419481.2:p.Phe571Leu
ENST00000357654.9:c.5149T>C MANE Select	ENSP00000350283.3:p.Phe1717Leu
ENST00000471181.7:c.5212T>C	ENSP00000418960.2:p.Phe1738Leu
ENST00000644379.1:c.1536T>C
ENST00000352993.7:c.1723T>C	ENSP00000312236.5:p.Phe575Leu
ENST00000357654.7:c.5149T>C	ENSP00000350283.3:p.Phe1717Leu
ENST00000461221.5:c.*4932T>C	ENSP00000418548.1:n.*4932T>C
ENST00000468300.5:c.1837T>C	ENSP00000417148.1:p.Phe613Leu
ENST00000471181.6:c.5212T>C	ENSP00000418960.2:p.Phe1738Leu
ENST00000478531.5:c.1837T>C	ENSP00000420412.1:p.Phe613Leu
ENST00000484087.5:c.1462T>C	ENSP00000419481.1:p.Phe488Leu
ENST00000491747.6:c.1837T>C	ENSP00000420705.2:p.Phe613Leu
ENST00000493795.5:c.5008T>C	ENSP00000418775.1:p.Phe1670Leu
ENST00000493919.5:c.1699T>C	ENSP00000418819.1:p.Phe567Leu
ENST00000586385.5:c.79T>C	ENSP00000465818.1:p.Phe27Leu
ENST00000591534.5:c.622T>C	ENSP00000467329.1:p.Phe208Leu
ENST00000591849.5:c.-98-13687T>C	ENSP00000465347.1:n.-98-13687T>C
NM_007294.3:c.5149T>C , LRG_292t1:c.5149T>C	NP_009225.1:p.Phe1717Leu
NM_007297.3:c.5008T>C	NP_009228.2:p.Phe1670Leu
NM_007298.3:c.1837T>C	NP_009229.2:p.Phe613Leu
NM_007299.3:c.1837T>C	NP_009230.2:p.Phe613Leu
NM_007300.3:c.5212T>C	NP_009231.2:p.Phe1738Leu
NR_027676.1:n.5285T>C
NM_007294.4:c.5149T>C MANE Select	NP_009225.1:p.Phe1717Leu
NM_007297.4:c.5008T>C	NP_009228.2:p.Phe1670Leu
NM_007299.4:c.1837T>C	NP_009230.2:p.Phe613Leu
NM_007300.4:c.5212T>C	NP_009231.2:p.Phe1738Leu
NR_027676.2:n.5326T>C