Canonical Allele Identifier: CA10590697

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865411
• ClinVar RCV Id: RCV001072825
• dbSNP Id: rs2051077510
• MyVariant Identifiers: chr17:g.41201155A>G (hg19) ; chr17:g.43049138A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049138A>G , CM000679.2:g.43049138A>G	GRCh38
NC_000017.10:g.41201155A>G , CM000679.1:g.41201155A>G	GRCh37
NC_000017.9:g.38454681A>G	NCBI36
NG_005905.2:g.168846T>C , LRG_292:g.168846T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5386T>C	ENSP00000417241.2:p.Ser1796Pro
ENST00000470026.6:c.5389T>C	ENSP00000419274.2:p.Ser1797Pro
ENST00000473961.6:c.5263T>C	ENSP00000420201.2:p.Ser1755Pro
ENST00000476777.6:c.5383T>C	ENSP00000417554.2:p.Ser1795Pro
ENST00000477152.6:c.5311T>C	ENSP00000419988.2:p.Ser1771Pro
ENST00000478531.6:c.2077T>C	ENSP00000420412.2:p.Ser693Pro
ENST00000489037.2:c.5311T>C	ENSP00000420781.2:p.Ser1771Pro
ENST00000493919.6:c.1939T>C	ENSP00000418819.2:p.Ser647Pro
ENST00000494123.6:c.5389T>C	ENSP00000419103.2:p.Ser1797Pro
ENST00000497488.2:c.4501T>C	ENSP00000418986.2:p.Ser1501Pro
ENST00000618469.2:c.5389T>C	ENSP00000478114.2:p.Ser1797Pro
ENST00000634433.2:c.5266T>C	ENSP00000489431.2:p.Ser1756Pro
ENST00000644379.2:c.5455T>C	ENSP00000496570.2:p.Ser1819Pro
ENST00000644555.2:c.1939T>C	ENSP00000494614.2:p.Ser647Pro
ENST00000652672.2:c.5248T>C	ENSP00000498906.2:p.Ser1750Pro
ENST00000484087.6:c.1951T>C	ENSP00000419481.2:p.Ser651Pro
ENST00000700081.1:n.1272T>C
ENST00000357654.9:c.5389T>C MANE Select	ENSP00000350283.3:p.Ser1797Pro
ENST00000471181.7:c.5452T>C	ENSP00000418960.2:p.Ser1818Pro
ENST00000644379.1:c.1776T>C
ENST00000352993.7:c.1963T>C	ENSP00000312236.5:p.Ser655Pro
ENST00000357654.7:c.5389T>C	ENSP00000350283.3:p.Ser1797Pro
ENST00000461221.5:c.*5172T>C	ENSP00000418548.1:n.*5172T>C
ENST00000468300.5:c.2021-1435T>C	ENSP00000417148.1:n.2021-1435T>C
ENST00000471181.6:c.5452T>C	ENSP00000418960.2:p.Ser1818Pro
ENST00000491747.6:c.2077T>C	ENSP00000420705.2:p.Ser693Pro
ENST00000493795.5:c.5248T>C	ENSP00000418775.1:p.Ser1750Pro
ENST00000586385.5:c.319T>C	ENSP00000465818.1:p.Ser107Pro
ENST00000591534.5:c.862T>C	ENSP00000467329.1:p.Ser288Pro
ENST00000591849.5:c.88T>C	ENSP00000465347.1:p.Ser30Pro
NM_007294.3:c.5389T>C , LRG_292t1:c.5389T>C	NP_009225.1:p.Ser1797Pro
NM_007297.3:c.5248T>C	NP_009228.2:p.Ser1750Pro
NM_007298.3:c.2077T>C	NP_009229.2:p.Ser693Pro
NM_007299.3:c.2021-1435T>C	NP_009230.2:n.2021-1435T>C
NM_007300.3:c.5452T>C	NP_009231.2:p.Ser1818Pro
NR_027676.1:n.5525T>C
NM_007294.4:c.5389T>C MANE Select	NP_009225.1:p.Ser1797Pro
NM_007297.4:c.5248T>C	NP_009228.2:p.Ser1750Pro
NM_007299.4:c.2021-1435T>C	NP_009230.2:n.2021-1435T>C
NM_007300.4:c.5452T>C	NP_009231.2:p.Ser1818Pro
NR_027676.2:n.5566T>C