Canonical Allele Identifier: CA003246

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 41832
• ClinVar RCV Id: RCV000034758 ; RCV000132233 ; RCV001076405 ; RCV000229512
• dbSNP Id: rs80356858
• MyVariant Identifiers: chr17:g.41215930G>C (hg19) ; chr17:g.43063913G>C (hg38)
• PubMed: PMID:22703879

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063913G>C , CM000679.2:g.43063913G>C	GRCh38
NC_000017.10:g.41215930G>C , CM000679.1:g.41215930G>C	GRCh37
NC_000017.9:g.38469456G>C	NCBI36
NG_005905.2:g.154071C>G , LRG_292:g.154071C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5110C>G	ENSP00000417241.2:p.Leu1704Val
ENST00000470026.6:c.5113C>G	ENSP00000419274.2:p.Leu1705Val
ENST00000473961.6:c.4987C>G	ENSP00000420201.2:p.Leu1663Val
ENST00000476777.6:c.5107C>G	ENSP00000417554.2:p.Leu1703Val
ENST00000477152.6:c.5035C>G	ENSP00000419988.2:p.Leu1679Val
ENST00000478531.6:c.1801C>G	ENSP00000420412.2:p.Leu601Val
ENST00000489037.2:c.5035C>G	ENSP00000420781.2:p.Leu1679Val
ENST00000493919.6:c.1663C>G	ENSP00000418819.2:p.Leu555Val
ENST00000494123.6:c.5113C>G	ENSP00000419103.2:p.Leu1705Val
ENST00000497488.2:c.4225C>G	ENSP00000418986.2:p.Leu1409Val
ENST00000618469.2:c.5113C>G	ENSP00000478114.2:p.Leu1705Val
ENST00000634433.2:c.4990C>G	ENSP00000489431.2:p.Leu1664Val
ENST00000644379.2:c.5179C>G	ENSP00000496570.2:p.Leu1727Val
ENST00000644555.2:c.1663C>G	ENSP00000494614.2:p.Leu555Val
ENST00000652672.2:c.4972C>G	ENSP00000498906.2:p.Leu1658Val
ENST00000484087.6:c.1675C>G	ENSP00000419481.2:p.Leu559Val
ENST00000357654.9:c.5113C>G MANE Select	ENSP00000350283.3:p.Leu1705Val
ENST00000471181.7:c.5176C>G	ENSP00000418960.2:p.Leu1726Val
ENST00000644379.1:c.1500C>G
ENST00000352993.7:c.1687C>G	ENSP00000312236.5:p.Leu563Val
ENST00000357654.7:c.5113C>G	ENSP00000350283.3:p.Leu1705Val
ENST00000461221.5:c.*4896C>G	ENSP00000418548.1:n.*4896C>G
ENST00000468300.5:c.1801C>G	ENSP00000417148.1:p.Leu601Val
ENST00000471181.6:c.5176C>G	ENSP00000418960.2:p.Leu1726Val
ENST00000478531.5:c.1801C>G	ENSP00000420412.1:p.Leu601Val
ENST00000484087.5:c.1426C>G	ENSP00000419481.1:p.Leu476Val
ENST00000491747.6:c.1801C>G	ENSP00000420705.2:p.Leu601Val
ENST00000493795.5:c.4972C>G	ENSP00000418775.1:p.Leu1658Val
ENST00000493919.5:c.1663C>G	ENSP00000418819.1:p.Leu555Val
ENST00000586385.5:c.43C>G	ENSP00000465818.1:p.Leu15Val
ENST00000591534.5:c.586C>G	ENSP00000467329.1:p.Leu196Val
ENST00000591849.5:c.-98-13723C>G	ENSP00000465347.1:n.-98-13723C>G
NM_007294.3:c.5113C>G , LRG_292t1:c.5113C>G	NP_009225.1:p.Leu1705Val
NM_007297.3:c.4972C>G	NP_009228.2:p.Leu1658Val
NM_007298.3:c.1801C>G	NP_009229.2:p.Leu601Val
NM_007299.3:c.1801C>G	NP_009230.2:p.Leu601Val
NM_007300.3:c.5176C>G	NP_009231.2:p.Leu1726Val
NR_027676.1:n.5249C>G
NM_007294.4:c.5113C>G MANE Select	NP_009225.1:p.Leu1705Val
NM_007297.4:c.4972C>G	NP_009228.2:p.Leu1658Val
NM_007299.4:c.1801C>G	NP_009230.2:p.Leu601Val
NM_007300.4:c.5176C>G	NP_009231.2:p.Leu1726Val
NR_027676.2:n.5290C>G