Canonical Allele Identifier: CA002853

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 187167
• ClinVar RCV Id: RCV000166866 ; RCV003644926
• dbSNP Id: rs786203524
• MyVariant Identifiers: chr17:g.41228554C>G (hg19) ; chr17:g.43076537C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076537C>G , CM000679.2:g.43076537C>G	GRCh38
NC_000017.10:g.41228554C>G , CM000679.1:g.41228554C>G	GRCh37
NC_000017.9:g.38482080C>G	NCBI36
NG_005905.2:g.141447G>C , LRG_292:g.141447G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4432G>C	ENSP00000417241.2:p.Val1478Leu
ENST00000470026.6:c.4435G>C	ENSP00000419274.2:p.Val1479Leu
ENST00000473961.6:c.4309G>C	ENSP00000420201.2:p.Val1437Leu
ENST00000476777.6:c.4429G>C	ENSP00000417554.2:p.Val1477Leu
ENST00000477152.6:c.4357G>C	ENSP00000419988.2:p.Val1453Leu
ENST00000478531.6:c.1123G>C	ENSP00000420412.2:p.Val375Leu
ENST00000489037.2:c.4357G>C	ENSP00000420781.2:p.Val1453Leu
ENST00000493919.6:c.985G>C	ENSP00000418819.2:p.Val329Leu
ENST00000494123.6:c.4435G>C	ENSP00000419103.2:p.Val1479Leu
ENST00000497488.2:c.3547G>C	ENSP00000418986.2:p.Val1183Leu
ENST00000618469.2:c.4435G>C	ENSP00000478114.2:p.Val1479Leu
ENST00000634433.2:c.4312G>C	ENSP00000489431.2:p.Val1438Leu
ENST00000644379.2:c.4501G>C	ENSP00000496570.2:p.Val1501Leu
ENST00000644555.2:c.985G>C	ENSP00000494614.2:p.Val329Leu
ENST00000652672.2:c.4294G>C	ENSP00000498906.2:p.Val1432Leu
ENST00000484087.6:c.997G>C	ENSP00000419481.2:p.Val333Leu
ENST00000700182.1:c.1042G>C	ENSP00000514849.1:p.Val348Leu
ENST00000357654.9:c.4435G>C MANE Select	ENSP00000350283.3:p.Val1479Leu
ENST00000471181.7:c.4498G>C	ENSP00000418960.2:p.Val1500Leu
ENST00000644379.1:c.822G>C
ENST00000352993.7:c.1009G>C	ENSP00000312236.5:p.Val337Leu
ENST00000357654.7:c.4435G>C	ENSP00000350283.3:p.Val1479Leu
ENST00000461221.5:c.*4218G>C	ENSP00000418548.1:n.*4218G>C
ENST00000461574.1:c.726G>C
ENST00000468300.5:c.1123G>C	ENSP00000417148.1:p.Val375Leu
ENST00000471181.6:c.4498G>C	ENSP00000418960.2:p.Val1500Leu
ENST00000478531.5:c.1123G>C	ENSP00000420412.1:p.Val375Leu
ENST00000484087.5:c.748G>C	ENSP00000419481.1:p.Val250Leu
ENST00000487825.5:c.751G>C	ENSP00000418212.1:p.Val251Leu
ENST00000491747.6:c.1123G>C	ENSP00000420705.2:p.Val375Leu
ENST00000493795.5:c.4294G>C	ENSP00000418775.1:p.Val1432Leu
ENST00000493919.5:c.985G>C	ENSP00000418819.1:p.Val329Leu
ENST00000586385.5:c.5-12586G>C	ENSP00000465818.1:n.5-12586G>C
ENST00000591534.5:c.-43-2016G>C	ENSP00000467329.1:n.-43-2016G>C
ENST00000591849.5:c.-98-26347G>C	ENSP00000465347.1:n.-98-26347G>C
ENST00000621897.1:n.326G>C
NM_007294.3:c.4435G>C , LRG_292t1:c.4435G>C	NP_009225.1:p.Val1479Leu
NM_007297.3:c.4294G>C	NP_009228.2:p.Val1432Leu
NM_007298.3:c.1123G>C	NP_009229.2:p.Val375Leu
NM_007299.3:c.1123G>C	NP_009230.2:p.Val375Leu
NM_007300.3:c.4498G>C	NP_009231.2:p.Val1500Leu
NR_027676.1:n.4571G>C
NM_007294.4:c.4435G>C MANE Select	NP_009225.1:p.Val1479Leu
NM_007297.4:c.4294G>C	NP_009228.2:p.Val1432Leu
NM_007299.4:c.1123G>C	NP_009230.2:p.Val375Leu
NM_007300.4:c.4498G>C	NP_009231.2:p.Val1500Leu
NR_027676.2:n.4612G>C