Canonical Allele Identifier: CA002718

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55144
• ClinVar RCV Id: RCV000112300 ; RCV001326890
• dbSNP Id: rs80357492
• MyVariant Identifiers: chr17:g.41234558A>G (hg19) ; chr17:g.43082541A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082541A>G , CM000679.2:g.43082541A>G	GRCh38
NC_000017.10:g.41234558A>G , CM000679.1:g.41234558A>G	GRCh37
NC_000017.9:g.38488084A>G	NCBI36
NG_005905.2:g.135443T>C , LRG_292:g.135443T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4220T>C	ENSP00000417241.2:p.Leu1407Pro
ENST00000470026.6:c.4220T>C	ENSP00000419274.2:p.Leu1407Pro
ENST00000473961.6:c.4094T>C	ENSP00000420201.2:p.Leu1365Pro
ENST00000476777.6:c.4214T>C	ENSP00000417554.2:p.Leu1405Pro
ENST00000477152.6:c.4142T>C	ENSP00000419988.2:p.Leu1381Pro
ENST00000478531.6:c.908T>C	ENSP00000420412.2:p.Leu303Pro
ENST00000489037.2:c.4142T>C	ENSP00000420781.2:p.Leu1381Pro
ENST00000493919.6:c.770T>C	ENSP00000418819.2:p.Leu257Pro
ENST00000494123.6:c.4220T>C	ENSP00000419103.2:p.Leu1407Pro
ENST00000497488.2:c.3332T>C	ENSP00000418986.2:p.Leu1111Pro
ENST00000618469.2:c.4220T>C	ENSP00000478114.2:p.Leu1407Pro
ENST00000634433.2:c.4097T>C	ENSP00000489431.2:p.Leu1366Pro
ENST00000644379.2:c.4220T>C	ENSP00000496570.2:p.Leu1407Pro
ENST00000644555.2:c.770T>C	ENSP00000494614.2:p.Leu257Pro
ENST00000652672.2:c.4079T>C	ENSP00000498906.2:p.Leu1360Pro
ENST00000484087.6:c.785T>C	ENSP00000419481.2:p.Leu262Pro
ENST00000700182.1:c.830T>C	ENSP00000514849.1:p.Leu277Pro
ENST00000357654.9:c.4220T>C MANE Select	ENSP00000350283.3:p.Leu1407Pro
ENST00000471181.7:c.4220T>C	ENSP00000418960.2:p.Leu1407Pro
ENST00000644379.1:c.541T>C
ENST00000352993.7:c.794T>C	ENSP00000312236.5:p.Leu265Pro
ENST00000357654.7:c.4220T>C	ENSP00000350283.3:p.Leu1407Pro
ENST00000461221.5:c.*4003T>C	ENSP00000418548.1:n.*4003T>C
ENST00000461574.1:c.514T>C
ENST00000468300.5:c.911T>C	ENSP00000417148.1:p.Leu304Pro
ENST00000471181.6:c.4220T>C	ENSP00000418960.2:p.Leu1407Pro
ENST00000478531.5:c.908T>C	ENSP00000420412.1:p.Leu303Pro
ENST00000484087.5:c.533T>C	ENSP00000419481.1:p.Leu178Pro
ENST00000487825.5:c.536T>C	ENSP00000418212.1:p.Leu179Pro
ENST00000491747.6:c.911T>C	ENSP00000420705.2:p.Leu304Pro
ENST00000493795.5:c.4079T>C	ENSP00000418775.1:p.Leu1360Pro
ENST00000493919.5:c.770T>C	ENSP00000418819.1:p.Leu257Pro
ENST00000586385.5:c.5-18590T>C	ENSP00000465818.1:n.5-18590T>C
ENST00000591534.5:c.-43-8020T>C	ENSP00000467329.1:n.-43-8020T>C
ENST00000591849.5:c.-98-32351T>C	ENSP00000465347.1:n.-98-32351T>C
ENST00000621897.1:n.114T>C
NM_007294.3:c.4220T>C , LRG_292t1:c.4220T>C	NP_009225.1:p.Leu1407Pro
NM_007297.3:c.4079T>C	NP_009228.2:p.Leu1360Pro
NM_007298.3:c.911T>C	NP_009229.2:p.Leu304Pro
NM_007299.3:c.911T>C	NP_009230.2:p.Leu304Pro
NM_007300.3:c.4220T>C	NP_009231.2:p.Leu1407Pro
NR_027676.1:n.4356T>C
NM_007294.4:c.4220T>C MANE Select	NP_009225.1:p.Leu1407Pro
NM_007297.4:c.4079T>C	NP_009228.2:p.Leu1360Pro
NM_007299.4:c.911T>C	NP_009230.2:p.Leu304Pro
NM_007300.4:c.4220T>C	NP_009231.2:p.Leu1407Pro
NR_027676.2:n.4397T>C