Canonical Allele Identifier: CA002753

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55163
• ClinVar RCV Id: RCV000112311 ; RCV001022227
• dbSNP Id: rs80357157
• MyVariant Identifiers: chr17:g.41234484T>G (hg19) ; chr17:g.43082467T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082467T>G , CM000679.2:g.43082467T>G	GRCh38
NC_000017.10:g.41234484T>G , CM000679.1:g.41234484T>G	GRCh37
NC_000017.9:g.38488010T>G	NCBI36
NG_005905.2:g.135517A>C , LRG_292:g.135517A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4294A>C	ENSP00000417241.2:p.Ile1432Leu
ENST00000470026.6:c.4294A>C	ENSP00000419274.2:p.Ile1432Leu
ENST00000473961.6:c.4168A>C	ENSP00000420201.2:p.Ile1390Leu
ENST00000476777.6:c.4288A>C	ENSP00000417554.2:p.Ile1430Leu
ENST00000477152.6:c.4216A>C	ENSP00000419988.2:p.Ile1406Leu
ENST00000478531.6:c.982A>C	ENSP00000420412.2:p.Ile328Leu
ENST00000489037.2:c.4216A>C	ENSP00000420781.2:p.Ile1406Leu
ENST00000493919.6:c.844A>C	ENSP00000418819.2:p.Ile282Leu
ENST00000494123.6:c.4294A>C	ENSP00000419103.2:p.Ile1432Leu
ENST00000497488.2:c.3406A>C	ENSP00000418986.2:p.Ile1136Leu
ENST00000618469.2:c.4294A>C	ENSP00000478114.2:p.Ile1432Leu
ENST00000634433.2:c.4171A>C	ENSP00000489431.2:p.Ile1391Leu
ENST00000644379.2:c.4294A>C	ENSP00000496570.2:p.Ile1432Leu
ENST00000644555.2:c.844A>C	ENSP00000494614.2:p.Ile282Leu
ENST00000652672.2:c.4153A>C	ENSP00000498906.2:p.Ile1385Leu
ENST00000484087.6:c.859A>C	ENSP00000419481.2:p.Ile287Leu
ENST00000700182.1:c.904A>C	ENSP00000514849.1:p.Ile302Leu
ENST00000357654.9:c.4294A>C MANE Select	ENSP00000350283.3:p.Ile1432Leu
ENST00000471181.7:c.4294A>C	ENSP00000418960.2:p.Ile1432Leu
ENST00000644379.1:c.615A>C
ENST00000352993.7:c.868A>C	ENSP00000312236.5:p.Ile290Leu
ENST00000357654.7:c.4294A>C	ENSP00000350283.3:p.Ile1432Leu
ENST00000461221.5:c.*4077A>C	ENSP00000418548.1:n.*4077A>C
ENST00000461574.1:c.588A>C
ENST00000468300.5:c.985A>C	ENSP00000417148.1:p.Ile329Leu
ENST00000471181.6:c.4294A>C	ENSP00000418960.2:p.Ile1432Leu
ENST00000478531.5:c.982A>C	ENSP00000420412.1:p.Ile328Leu
ENST00000484087.5:c.607A>C	ENSP00000419481.1:p.Ile203Leu
ENST00000487825.5:c.610A>C	ENSP00000418212.1:p.Ile204Leu
ENST00000491747.6:c.985A>C	ENSP00000420705.2:p.Ile329Leu
ENST00000493795.5:c.4153A>C	ENSP00000418775.1:p.Ile1385Leu
ENST00000493919.5:c.844A>C	ENSP00000418819.1:p.Ile282Leu
ENST00000586385.5:c.5-18516A>C	ENSP00000465818.1:n.5-18516A>C
ENST00000591534.5:c.-43-7946A>C	ENSP00000467329.1:n.-43-7946A>C
ENST00000591849.5:c.-98-32277A>C	ENSP00000465347.1:n.-98-32277A>C
ENST00000621897.1:n.188A>C
NM_007294.3:c.4294A>C , LRG_292t1:c.4294A>C	NP_009225.1:p.Ile1432Leu
NM_007297.3:c.4153A>C	NP_009228.2:p.Ile1385Leu
NM_007298.3:c.985A>C	NP_009229.2:p.Ile329Leu
NM_007299.3:c.985A>C	NP_009230.2:p.Ile329Leu
NM_007300.3:c.4294A>C	NP_009231.2:p.Ile1432Leu
NR_027676.1:n.4430A>C
NM_007294.4:c.4294A>C MANE Select	NP_009225.1:p.Ile1432Leu
NM_007297.4:c.4153A>C	NP_009228.2:p.Ile1385Leu
NM_007299.4:c.985A>C	NP_009230.2:p.Ile329Leu
NM_007300.4:c.4294A>C	NP_009231.2:p.Ile1432Leu
NR_027676.2:n.4471A>C