Canonical Allele Identifier: CA10591371

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 864926
• ClinVar RCV Id: RCV001072224
• dbSNP Id: rs2051937547
• MyVariant Identifiers: chr17:g.41215967A>C (hg19) ; chr17:g.43063950A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063950A>C , CM000679.2:g.43063950A>C	GRCh38
NC_000017.10:g.41215967A>C , CM000679.1:g.41215967A>C	GRCh37
NC_000017.9:g.38469493A>C	NCBI36
NG_005905.2:g.154034T>G , LRG_292:g.154034T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5073T>G	ENSP00000417241.2:p.Asp1691Glu
ENST00000470026.6:c.5076T>G	ENSP00000419274.2:p.Asp1692Glu
ENST00000473961.6:c.4950T>G	ENSP00000420201.2:p.Asp1650Glu
ENST00000476777.6:c.5070T>G	ENSP00000417554.2:p.Asp1690Glu
ENST00000477152.6:c.4998T>G	ENSP00000419988.2:p.Asp1666Glu
ENST00000478531.6:c.1764T>G	ENSP00000420412.2:p.Asp588Glu
ENST00000489037.2:c.4998T>G	ENSP00000420781.2:p.Asp1666Glu
ENST00000493919.6:c.1626T>G	ENSP00000418819.2:p.Asp542Glu
ENST00000494123.6:c.5076T>G	ENSP00000419103.2:p.Asp1692Glu
ENST00000497488.2:c.4188T>G	ENSP00000418986.2:p.Asp1396Glu
ENST00000618469.2:c.5076T>G	ENSP00000478114.2:p.Asp1692Glu
ENST00000634433.2:c.4953T>G	ENSP00000489431.2:p.Asp1651Glu
ENST00000644379.2:c.5142T>G	ENSP00000496570.2:p.Asp1714Glu
ENST00000644555.2:c.1626T>G	ENSP00000494614.2:p.Asp542Glu
ENST00000652672.2:c.4935T>G	ENSP00000498906.2:p.Asp1645Glu
ENST00000484087.6:c.1638T>G	ENSP00000419481.2:p.Asp546Glu
ENST00000357654.9:c.5076T>G MANE Select	ENSP00000350283.3:p.Asp1692Glu
ENST00000471181.7:c.5139T>G	ENSP00000418960.2:p.Asp1713Glu
ENST00000644379.1:c.1463T>G
ENST00000352993.7:c.1650T>G	ENSP00000312236.5:p.Asp550Glu
ENST00000357654.7:c.5076T>G	ENSP00000350283.3:p.Asp1692Glu
ENST00000461221.5:c.*4859T>G	ENSP00000418548.1:n.*4859T>G
ENST00000468300.5:c.1764T>G	ENSP00000417148.1:p.Asp588Glu
ENST00000471181.6:c.5139T>G	ENSP00000418960.2:p.Asp1713Glu
ENST00000478531.5:c.1764T>G	ENSP00000420412.1:p.Asp588Glu
ENST00000484087.5:c.1389T>G	ENSP00000419481.1:p.Asp463Glu
ENST00000491747.6:c.1764T>G	ENSP00000420705.2:p.Asp588Glu
ENST00000493795.5:c.4935T>G	ENSP00000418775.1:p.Asp1645Glu
ENST00000493919.5:c.1626T>G	ENSP00000418819.1:p.Asp542Glu
ENST00000586385.5:c.6T>G	ENSP00000465818.1:p.Asp2Glu
ENST00000591534.5:c.549T>G	ENSP00000467329.1:p.Asp183Glu
ENST00000591849.5:c.-98-13760T>G	ENSP00000465347.1:n.-98-13760T>G
NM_007294.3:c.5076T>G , LRG_292t1:c.5076T>G	NP_009225.1:p.Asp1692Glu
NM_007297.3:c.4935T>G	NP_009228.2:p.Asp1645Glu
NM_007298.3:c.1764T>G	NP_009229.2:p.Asp588Glu
NM_007299.3:c.1764T>G	NP_009230.2:p.Asp588Glu
NM_007300.3:c.5139T>G	NP_009231.2:p.Asp1713Glu
NR_027676.1:n.5212T>G
NM_007294.4:c.5076T>G MANE Select	NP_009225.1:p.Asp1692Glu
NM_007297.4:c.4935T>G	NP_009228.2:p.Asp1645Glu
NM_007299.4:c.1764T>G	NP_009230.2:p.Asp588Glu
NM_007300.4:c.5139T>G	NP_009231.2:p.Asp1713Glu
NR_027676.2:n.5253T>G