Canonical Allele Identifier: CA10593478

Gene: BRCA1

Linked Data

• dbSNP Id: rs80357397
• MyVariant Identifiers: chr17:g.41243023C>G (hg19) ; chr17:g.43091006C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091006C>G , CM000679.2:g.43091006C>G	GRCh38
NC_000017.10:g.41243023C>G , CM000679.1:g.41243023C>G	GRCh37
NC_000017.9:g.38496549C>G	NCBI36
NG_005905.2:g.126978G>C , LRG_292:g.126978G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4123G>C	ENSP00000417241.2:p.Glu1375Gln
ENST00000470026.6:c.4123G>C	ENSP00000419274.2:p.Glu1375Gln
ENST00000473961.6:c.3997G>C	ENSP00000420201.2:p.Glu1333Gln
ENST00000476777.6:c.4120G>C	ENSP00000417554.2:p.Glu1374Gln
ENST00000477152.6:c.4045G>C	ENSP00000419988.2:p.Glu1349Gln
ENST00000478531.6:c.811G>C	ENSP00000420412.2:p.Glu271Gln
ENST00000489037.2:c.4045G>C	ENSP00000420781.2:p.Glu1349Gln
ENST00000493919.6:c.673G>C	ENSP00000418819.2:p.Glu225Gln
ENST00000494123.6:c.4123G>C	ENSP00000419103.2:p.Glu1375Gln
ENST00000497488.2:c.3235G>C	ENSP00000418986.2:p.Glu1079Gln
ENST00000618469.2:c.4123G>C	ENSP00000478114.2:p.Glu1375Gln
ENST00000634433.2:c.4000G>C	ENSP00000489431.2:p.Glu1334Gln
ENST00000644379.2:c.4123G>C	ENSP00000496570.2:p.Glu1375Gln
ENST00000644555.2:c.673G>C	ENSP00000494614.2:p.Glu225Gln
ENST00000652672.2:c.3982G>C	ENSP00000498906.2:p.Glu1328Gln
ENST00000484087.6:c.691G>C	ENSP00000419481.2:p.Glu231Gln
ENST00000700182.1:c.733G>C	ENSP00000514849.1:p.Glu245Gln
ENST00000357654.9:c.4123G>C MANE Select	ENSP00000350283.3:p.Glu1375Gln
ENST00000471181.7:c.4123G>C	ENSP00000418960.2:p.Glu1375Gln
ENST00000644379.1:c.444G>C
ENST00000352993.7:c.697G>C	ENSP00000312236.5:p.Glu233Gln
ENST00000357654.7:c.4123G>C	ENSP00000350283.3:p.Glu1375Gln
ENST00000461221.5:c.*3906G>C	ENSP00000418548.1:n.*3906G>C
ENST00000461574.1:c.417G>C
ENST00000468300.5:c.814G>C	ENSP00000417148.1:p.Glu272Gln
ENST00000471181.6:c.4123G>C	ENSP00000418960.2:p.Glu1375Gln
ENST00000478531.5:c.811G>C	ENSP00000420412.1:p.Glu271Gln
ENST00000484087.5:c.436G>C	ENSP00000419481.1:p.Glu146Gln
ENST00000487825.5:c.439G>C	ENSP00000418212.1:p.Glu147Gln
ENST00000491747.6:c.814G>C	ENSP00000420705.2:p.Glu272Gln
ENST00000493795.5:c.3982G>C	ENSP00000418775.1:p.Glu1328Gln
ENST00000493919.5:c.673G>C	ENSP00000418819.1:p.Glu225Gln
ENST00000586385.5:c.5-27055G>C	ENSP00000465818.1:n.5-27055G>C
ENST00000591534.5:c.-43-16485G>C	ENSP00000467329.1:n.-43-16485G>C
ENST00000591849.5:c.-99+34265G>C	ENSP00000465347.1:n.-99+34265G>C
NM_007294.3:c.4123G>C , LRG_292t1:c.4123G>C	NP_009225.1:p.Glu1375Gln
NM_007297.3:c.3982G>C	NP_009228.2:p.Glu1328Gln
NM_007298.3:c.814G>C	NP_009229.2:p.Glu272Gln
NM_007299.3:c.814G>C	NP_009230.2:p.Glu272Gln
NM_007300.3:c.4123G>C	NP_009231.2:p.Glu1375Gln
NR_027676.1:n.4259G>C
NM_007294.4:c.4123G>C MANE Select	NP_009225.1:p.Glu1375Gln
NM_007297.4:c.3982G>C	NP_009228.2:p.Glu1328Gln
NM_007299.4:c.814G>C	NP_009230.2:p.Glu272Gln
NM_007300.4:c.4123G>C	NP_009231.2:p.Glu1375Gln
NR_027676.2:n.4300G>C