Canonical Allele Identifier: CA10591442

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868550
• ClinVar RCV Id: RCV001077471
• dbSNP Id: rs2052170937
• MyVariant Identifiers: chr17:g.41219661T>G (hg19) ; chr17:g.43067644T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067644T>G , CM000679.2:g.43067644T>G	GRCh38
NC_000017.10:g.41219661T>G , CM000679.1:g.41219661T>G	GRCh37
NC_000017.9:g.38473187T>G	NCBI36
NG_005905.2:g.150340A>C , LRG_292:g.150340A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5035A>C	ENSP00000417241.2:p.Ile1679Leu
ENST00000470026.6:c.5038A>C	ENSP00000419274.2:p.Ile1680Leu
ENST00000473961.6:c.4912A>C	ENSP00000420201.2:p.Ile1638Leu
ENST00000476777.6:c.5032A>C	ENSP00000417554.2:p.Ile1678Leu
ENST00000477152.6:c.4960A>C	ENSP00000419988.2:p.Ile1654Leu
ENST00000478531.6:c.1726A>C	ENSP00000420412.2:p.Ile576Leu
ENST00000489037.2:c.4960A>C	ENSP00000420781.2:p.Ile1654Leu
ENST00000493919.6:c.1588A>C	ENSP00000418819.2:p.Ile530Leu
ENST00000494123.6:c.5038A>C	ENSP00000419103.2:p.Ile1680Leu
ENST00000497488.2:c.4150A>C	ENSP00000418986.2:p.Ile1384Leu
ENST00000618469.2:c.5038A>C	ENSP00000478114.2:p.Ile1680Leu
ENST00000634433.2:c.4915A>C	ENSP00000489431.2:p.Ile1639Leu
ENST00000644379.2:c.5104A>C	ENSP00000496570.2:p.Ile1702Leu
ENST00000644555.2:c.1588A>C	ENSP00000494614.2:p.Ile530Leu
ENST00000652672.2:c.4897A>C	ENSP00000498906.2:p.Ile1633Leu
ENST00000484087.6:c.1600A>C	ENSP00000419481.2:p.Ile534Leu
ENST00000357654.9:c.5038A>C MANE Select	ENSP00000350283.3:p.Ile1680Leu
ENST00000471181.7:c.5101A>C	ENSP00000418960.2:p.Ile1701Leu
ENST00000644379.1:c.1425A>C
ENST00000352993.7:c.1612A>C	ENSP00000312236.5:p.Ile538Leu
ENST00000357654.7:c.5038A>C	ENSP00000350283.3:p.Ile1680Leu
ENST00000461221.5:c.*4821A>C	ENSP00000418548.1:n.*4821A>C
ENST00000468300.5:c.1726A>C	ENSP00000417148.1:p.Ile576Leu
ENST00000471181.6:c.5101A>C	ENSP00000418960.2:p.Ile1701Leu
ENST00000472490.1:n.191A>C
ENST00000478531.5:c.1726A>C	ENSP00000420412.1:p.Ile576Leu
ENST00000484087.5:c.1351A>C	ENSP00000419481.1:p.Ile451Leu
ENST00000491747.6:c.1726A>C	ENSP00000420705.2:p.Ile576Leu
ENST00000493795.5:c.4897A>C	ENSP00000418775.1:p.Ile1633Leu
ENST00000493919.5:c.1588A>C	ENSP00000418819.1:p.Ile530Leu
ENST00000586385.5:c.5-3693A>C	ENSP00000465818.1:n.5-3693A>C
ENST00000591534.5:c.511A>C	ENSP00000467329.1:p.Ile171Leu
ENST00000591849.5:c.-98-17454A>C	ENSP00000465347.1:n.-98-17454A>C
NM_007294.3:c.5038A>C , LRG_292t1:c.5038A>C	NP_009225.1:p.Ile1680Leu
NM_007297.3:c.4897A>C	NP_009228.2:p.Ile1633Leu
NM_007298.3:c.1726A>C	NP_009229.2:p.Ile576Leu
NM_007299.3:c.1726A>C	NP_009230.2:p.Ile576Leu
NM_007300.3:c.5101A>C	NP_009231.2:p.Ile1701Leu
NR_027676.1:n.5174A>C
NM_007294.4:c.5038A>C MANE Select	NP_009225.1:p.Ile1680Leu
NM_007297.4:c.4897A>C	NP_009228.2:p.Ile1633Leu
NM_007299.4:c.1726A>C	NP_009230.2:p.Ile576Leu
NM_007300.4:c.5101A>C	NP_009231.2:p.Ile1701Leu
NR_027676.2:n.5215A>C