Canonical Allele Identifier: CA10593126

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 924219
• ClinVar RCV Id: RCV001185422
• dbSNP Id: rs1317431294
• MyVariant Identifiers: chr17:g.41234480A>G (hg19) ; chr17:g.43082463A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082463A>G , CM000679.2:g.43082463A>G	GRCh38
NC_000017.10:g.41234480A>G , CM000679.1:g.41234480A>G	GRCh37
NC_000017.9:g.38488006A>G	NCBI36
NG_005905.2:g.135521T>C , LRG_292:g.135521T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4298T>C	ENSP00000417241.2:p.Ile1433Thr
ENST00000470026.6:c.4298T>C	ENSP00000419274.2:p.Ile1433Thr
ENST00000473961.6:c.4172T>C	ENSP00000420201.2:p.Ile1391Thr
ENST00000476777.6:c.4292T>C	ENSP00000417554.2:p.Ile1431Thr
ENST00000477152.6:c.4220T>C	ENSP00000419988.2:p.Ile1407Thr
ENST00000478531.6:c.986T>C	ENSP00000420412.2:p.Ile329Thr
ENST00000489037.2:c.4220T>C	ENSP00000420781.2:p.Ile1407Thr
ENST00000493919.6:c.848T>C	ENSP00000418819.2:p.Ile283Thr
ENST00000494123.6:c.4298T>C	ENSP00000419103.2:p.Ile1433Thr
ENST00000497488.2:c.3410T>C	ENSP00000418986.2:p.Ile1137Thr
ENST00000618469.2:c.4298T>C	ENSP00000478114.2:p.Ile1433Thr
ENST00000634433.2:c.4175T>C	ENSP00000489431.2:p.Ile1392Thr
ENST00000644379.2:c.4298T>C	ENSP00000496570.2:p.Ile1433Thr
ENST00000644555.2:c.848T>C	ENSP00000494614.2:p.Ile283Thr
ENST00000652672.2:c.4157T>C	ENSP00000498906.2:p.Ile1386Thr
ENST00000484087.6:c.863T>C	ENSP00000419481.2:p.Ile288Thr
ENST00000700182.1:c.908T>C	ENSP00000514849.1:p.Ile303Thr
ENST00000357654.9:c.4298T>C MANE Select	ENSP00000350283.3:p.Ile1433Thr
ENST00000471181.7:c.4298T>C	ENSP00000418960.2:p.Ile1433Thr
ENST00000644379.1:c.619T>C
ENST00000352993.7:c.872T>C	ENSP00000312236.5:p.Ile291Thr
ENST00000357654.7:c.4298T>C	ENSP00000350283.3:p.Ile1433Thr
ENST00000461221.5:c.*4081T>C	ENSP00000418548.1:n.*4081T>C
ENST00000461574.1:c.592T>C
ENST00000468300.5:c.989T>C	ENSP00000417148.1:p.Ile330Thr
ENST00000471181.6:c.4298T>C	ENSP00000418960.2:p.Ile1433Thr
ENST00000478531.5:c.986T>C	ENSP00000420412.1:p.Ile329Thr
ENST00000484087.5:c.611T>C	ENSP00000419481.1:p.Ile204Thr
ENST00000487825.5:c.614T>C	ENSP00000418212.1:p.Ile205Thr
ENST00000491747.6:c.989T>C	ENSP00000420705.2:p.Ile330Thr
ENST00000493795.5:c.4157T>C	ENSP00000418775.1:p.Ile1386Thr
ENST00000493919.5:c.848T>C	ENSP00000418819.1:p.Ile283Thr
ENST00000586385.5:c.5-18512T>C	ENSP00000465818.1:n.5-18512T>C
ENST00000591534.5:c.-43-7942T>C	ENSP00000467329.1:n.-43-7942T>C
ENST00000591849.5:c.-98-32273T>C	ENSP00000465347.1:n.-98-32273T>C
ENST00000621897.1:n.192T>C
NM_007294.3:c.4298T>C , LRG_292t1:c.4298T>C	NP_009225.1:p.Ile1433Thr
NM_007297.3:c.4157T>C	NP_009228.2:p.Ile1386Thr
NM_007298.3:c.989T>C	NP_009229.2:p.Ile330Thr
NM_007299.3:c.989T>C	NP_009230.2:p.Ile330Thr
NM_007300.3:c.4298T>C	NP_009231.2:p.Ile1433Thr
NR_027676.1:n.4434T>C
NM_007294.4:c.4298T>C MANE Select	NP_009225.1:p.Ile1433Thr
NM_007297.4:c.4157T>C	NP_009228.2:p.Ile1386Thr
NM_007299.4:c.989T>C	NP_009230.2:p.Ile330Thr
NM_007300.4:c.4298T>C	NP_009231.2:p.Ile1433Thr
NR_027676.2:n.4475T>C