Canonical Allele Identifier: CA10591912

Gene: BRCA1

Linked Data

• dbSNP Id: rs1597831323
• MyVariant Identifiers: chr17:g.41223127C>G (hg19) ; chr17:g.43071110C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071110C>G , CM000679.2:g.43071110C>G	GRCh38
NC_000017.10:g.41223127C>G , CM000679.1:g.41223127C>G	GRCh37
NC_000017.9:g.38476653C>G	NCBI36
NG_005905.2:g.146874G>C , LRG_292:g.146874G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4801G>C	ENSP00000417241.2:p.Val1601Leu
ENST00000470026.6:c.4804G>C	ENSP00000419274.2:p.Val1602Leu
ENST00000473961.6:c.4678G>C	ENSP00000420201.2:p.Val1560Leu
ENST00000476777.6:c.4798G>C	ENSP00000417554.2:p.Val1600Leu
ENST00000477152.6:c.4726G>C	ENSP00000419988.2:p.Val1576Leu
ENST00000478531.6:c.1492G>C	ENSP00000420412.2:p.Val498Leu
ENST00000489037.2:c.4726G>C	ENSP00000420781.2:p.Val1576Leu
ENST00000493919.6:c.1354G>C	ENSP00000418819.2:p.Val452Leu
ENST00000494123.6:c.4804G>C	ENSP00000419103.2:p.Val1602Leu
ENST00000497488.2:c.3916G>C	ENSP00000418986.2:p.Val1306Leu
ENST00000618469.2:c.4804G>C	ENSP00000478114.2:p.Val1602Leu
ENST00000634433.2:c.4681G>C	ENSP00000489431.2:p.Val1561Leu
ENST00000644379.2:c.4870G>C	ENSP00000496570.2:p.Val1624Leu
ENST00000644555.2:c.1354G>C	ENSP00000494614.2:p.Val452Leu
ENST00000652672.2:c.4663G>C	ENSP00000498906.2:p.Val1555Leu
ENST00000484087.6:c.1366G>C	ENSP00000419481.2:p.Val456Leu
ENST00000700182.1:c.1411G>C	ENSP00000514849.1:p.Val471Leu
ENST00000357654.9:c.4804G>C MANE Select	ENSP00000350283.3:p.Val1602Leu
ENST00000471181.7:c.4867G>C	ENSP00000418960.2:p.Val1623Leu
ENST00000644379.1:c.1191G>C
ENST00000352993.7:c.1378G>C	ENSP00000312236.5:p.Val460Leu
ENST00000357654.7:c.4804G>C	ENSP00000350283.3:p.Val1602Leu
ENST00000461221.5:c.*4587G>C	ENSP00000418548.1:n.*4587G>C
ENST00000468300.5:c.1492G>C	ENSP00000417148.1:p.Val498Leu
ENST00000471181.6:c.4867G>C	ENSP00000418960.2:p.Val1623Leu
ENST00000478531.5:c.1492G>C	ENSP00000420412.1:p.Val498Leu
ENST00000484087.5:c.1117G>C	ENSP00000419481.1:p.Val373Leu
ENST00000491747.6:c.1492G>C	ENSP00000420705.2:p.Val498Leu
ENST00000493795.5:c.4663G>C	ENSP00000418775.1:p.Val1555Leu
ENST00000493919.5:c.1354G>C	ENSP00000418819.1:p.Val452Leu
ENST00000586385.5:c.5-7159G>C	ENSP00000465818.1:n.5-7159G>C
ENST00000591534.5:c.277G>C	ENSP00000467329.1:p.Val93Leu
ENST00000591849.5:c.-98-20920G>C	ENSP00000465347.1:n.-98-20920G>C
NM_007294.3:c.4804G>C , LRG_292t1:c.4804G>C	NP_009225.1:p.Val1602Leu
NM_007297.3:c.4663G>C	NP_009228.2:p.Val1555Leu
NM_007298.3:c.1492G>C	NP_009229.2:p.Val498Leu
NM_007299.3:c.1492G>C	NP_009230.2:p.Val498Leu
NM_007300.3:c.4867G>C	NP_009231.2:p.Val1623Leu
NR_027676.1:n.4940G>C
NM_007294.4:c.4804G>C MANE Select	NP_009225.1:p.Val1602Leu
NM_007297.4:c.4663G>C	NP_009228.2:p.Val1555Leu
NM_007299.4:c.1492G>C	NP_009230.2:p.Val498Leu
NM_007300.4:c.4867G>C	NP_009231.2:p.Val1623Leu
NR_027676.2:n.4981G>C