Canonical Allele Identifier: CA500146310

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 491095
• ClinVar RCV Id: RCV000581993 ; RCV001077983
• dbSNP Id: rs1555579625
• MyVariant Identifiers: chr17:g.41219638A>G (hg19) ; chr17:g.43067621A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067621A>G , CM000679.2:g.43067621A>G	GRCh38
NC_000017.10:g.41219638A>G , CM000679.1:g.41219638A>G	GRCh37
NC_000017.9:g.38473164A>G	NCBI36
NG_005905.2:g.150363T>C , LRG_292:g.150363T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5058T>C	ENSP00000417241.2:p.Val1686=
ENST00000470026.6:c.5061T>C	ENSP00000419274.2:p.Val1687=
ENST00000473961.6:c.4935T>C	ENSP00000420201.2:p.Val1645=
ENST00000476777.6:c.5055T>C	ENSP00000417554.2:p.Val1685=
ENST00000477152.6:c.4983T>C	ENSP00000419988.2:p.Val1661=
ENST00000478531.6:c.1749T>C	ENSP00000420412.2:p.Val583=
ENST00000489037.2:c.4983T>C	ENSP00000420781.2:p.Val1661=
ENST00000493919.6:c.1611T>C	ENSP00000418819.2:p.Val537=
ENST00000494123.6:c.5061T>C	ENSP00000419103.2:p.Val1687=
ENST00000497488.2:c.4173T>C	ENSP00000418986.2:p.Val1391=
ENST00000618469.2:c.5061T>C	ENSP00000478114.2:p.Val1687=
ENST00000634433.2:c.4938T>C	ENSP00000489431.2:p.Val1646=
ENST00000644379.2:c.5127T>C	ENSP00000496570.2:p.Val1709=
ENST00000644555.2:c.1611T>C	ENSP00000494614.2:p.Val537=
ENST00000652672.2:c.4920T>C	ENSP00000498906.2:p.Val1640=
ENST00000484087.6:c.1623T>C	ENSP00000419481.2:p.Val541=
ENST00000357654.9:c.5061T>C MANE Select	ENSP00000350283.3:p.Val1687=
ENST00000471181.7:c.5124T>C	ENSP00000418960.2:p.Val1708=
ENST00000644379.1:c.1448T>C
ENST00000352993.7:c.1635T>C	ENSP00000312236.5:p.Val545=
ENST00000357654.7:c.5061T>C	ENSP00000350283.3:p.Val1687=
ENST00000461221.5:c.*4844T>C	ENSP00000418548.1:n.*4844T>C
ENST00000468300.5:c.1749T>C	ENSP00000417148.1:p.Val583=
ENST00000471181.6:c.5124T>C	ENSP00000418960.2:p.Val1708=
ENST00000472490.1:n.214T>C
ENST00000478531.5:c.1749T>C	ENSP00000420412.1:p.Val583=
ENST00000484087.5:c.1374T>C	ENSP00000419481.1:p.Val458=
ENST00000491747.6:c.1749T>C	ENSP00000420705.2:p.Val583=
ENST00000493795.5:c.4920T>C	ENSP00000418775.1:p.Val1640=
ENST00000493919.5:c.1611T>C	ENSP00000418819.1:p.Val537=
ENST00000586385.5:c.5-3670T>C	ENSP00000465818.1:n.5-3670T>C
ENST00000591534.5:c.534T>C	ENSP00000467329.1:p.Val178=
ENST00000591849.5:c.-98-17431T>C	ENSP00000465347.1:n.-98-17431T>C
NM_007294.3:c.5061T>C , LRG_292t1:c.5061T>C	NP_009225.1:p.Val1687=
NM_007297.3:c.4920T>C	NP_009228.2:p.Val1640=
NM_007298.3:c.1749T>C	NP_009229.2:p.Val583=
NM_007299.3:c.1749T>C	NP_009230.2:p.Val583=
NM_007300.3:c.5124T>C	NP_009231.2:p.Val1708=
NR_027676.1:n.5197T>C
NM_007294.4:c.5061T>C MANE Select	NP_009225.1:p.Val1687=
NM_007297.4:c.4920T>C	NP_009228.2:p.Val1640=
NM_007299.4:c.1749T>C	NP_009230.2:p.Val583=
NM_007300.4:c.5124T>C	NP_009231.2:p.Val1708=
NR_027676.2:n.5238T>C