Canonical Allele Identifier: CA10591586

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070944A>G , CM000679.2:g.43070944A>G	GRCh38
NC_000017.10:g.41222961A>G , CM000679.1:g.41222961A>G	GRCh37
NC_000017.9:g.38476487A>G	NCBI36
NG_005905.2:g.147040T>C , LRG_292:g.147040T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4970T>C MANE Select	NP_009225.1:p.Leu1657Pro
ENST00000357654.9:c.4970T>C MANE Select	ENSP00000350283.3:p.Leu1657Pro
NM_007294.3:c.4970T>C , LRG_292t1:c.4970T>C	NP_009225.1:p.Leu1657Pro
NM_007297.3:c.4829T>C	NP_009228.2:p.Leu1610Pro
NM_007297.4:c.4829T>C	NP_009228.2:p.Leu1610Pro
NM_007298.3:c.1658T>C	NP_009229.2:p.Leu553Pro
NM_007299.3:c.1658T>C	NP_009230.2:p.Leu553Pro
NM_007299.4:c.1658T>C	NP_009230.2:p.Leu553Pro
NM_007300.3:c.5033T>C	NP_009231.2:p.Leu1678Pro
NM_007300.4:c.5033T>C	NP_009231.2:p.Leu1678Pro
NR_027676.1:n.5106T>C
NR_027676.2:n.5147T>C
ENST00000352993.7:c.1544T>C	ENSP00000312236.5:p.Leu515Pro
ENST00000357654.7:c.4970T>C	ENSP00000350283.3:p.Leu1657Pro
ENST00000461221.5:c.*4753T>C	ENSP00000418548.1:n.*4753T>C
ENST00000461574.2:c.4967T>C	ENSP00000417241.2:p.Leu1656Pro
ENST00000468300.5:c.1658T>C	ENSP00000417148.1:p.Leu553Pro
ENST00000470026.6:c.4970T>C	ENSP00000419274.2:p.Leu1657Pro
ENST00000471181.6:c.5033T>C	ENSP00000418960.2:p.Leu1678Pro
ENST00000471181.7:c.5033T>C	ENSP00000418960.2:p.Leu1678Pro
ENST00000472490.1:n.123T>C
ENST00000473961.6:c.4844T>C	ENSP00000420201.2:p.Leu1615Pro
ENST00000476777.6:c.4964T>C	ENSP00000417554.2:p.Leu1655Pro
ENST00000477152.6:c.4892T>C	ENSP00000419988.2:p.Leu1631Pro
ENST00000478531.5:c.1658T>C	ENSP00000420412.1:p.Leu553Pro
ENST00000478531.6:c.1658T>C	ENSP00000420412.2:p.Leu553Pro
ENST00000484087.5:c.1283T>C	ENSP00000419481.1:p.Leu428Pro
ENST00000484087.6:c.1532T>C	ENSP00000419481.2:p.Leu511Pro
ENST00000489037.2:c.4892T>C	ENSP00000420781.2:p.Leu1631Pro
ENST00000491747.6:c.1658T>C	ENSP00000420705.2:p.Leu553Pro
ENST00000493795.5:c.4829T>C	ENSP00000418775.1:p.Leu1610Pro
ENST00000493919.5:c.1520T>C	ENSP00000418819.1:p.Leu507Pro
ENST00000493919.6:c.1520T>C	ENSP00000418819.2:p.Leu507Pro
ENST00000494123.6:c.4970T>C	ENSP00000419103.2:p.Leu1657Pro
ENST00000497488.2:c.4082T>C	ENSP00000418986.2:p.Leu1361Pro
ENST00000586385.5:c.5-6993T>C	ENSP00000465818.1:n.5-6993T>C
ENST00000591534.5:c.443T>C	ENSP00000467329.1:p.Leu148Pro
ENST00000591849.5:c.-98-20754T>C	ENSP00000465347.1:n.-98-20754T>C
ENST00000618469.2:c.4970T>C	ENSP00000478114.2:p.Leu1657Pro
ENST00000634433.2:c.4847T>C	ENSP00000489431.2:p.Leu1616Pro
ENST00000644379.1:c.1357T>C
ENST00000644379.2:c.5036T>C	ENSP00000496570.2:p.Leu1679Pro
ENST00000644555.2:c.1520T>C	ENSP00000494614.2:p.Leu507Pro
ENST00000652672.2:c.4829T>C	ENSP00000498906.2:p.Leu1610Pro
ENST00000700182.1:c.1577T>C	ENSP00000514849.1:p.Leu526Pro