Canonical Allele Identifier: CA10592673

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43076541-A-C
• MyVariant Identifiers: chr17:g.41228558A>C (hg19) ; chr17:g.43076541A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076541A>C , CM000679.2:g.43076541A>C	GRCh38
NC_000017.10:g.41228558A>C , CM000679.1:g.41228558A>C	GRCh37
NC_000017.9:g.38482084A>C	NCBI36
NG_005905.2:g.141443T>G , LRG_292:g.141443T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4428T>G	ENSP00000417241.2:p.Phe1476Leu
ENST00000470026.6:c.4431T>G	ENSP00000419274.2:p.Phe1477Leu
ENST00000473961.6:c.4305T>G	ENSP00000420201.2:p.Phe1435Leu
ENST00000476777.6:c.4425T>G	ENSP00000417554.2:p.Phe1475Leu
ENST00000477152.6:c.4353T>G	ENSP00000419988.2:p.Phe1451Leu
ENST00000478531.6:c.1119T>G	ENSP00000420412.2:p.Phe373Leu
ENST00000489037.2:c.4353T>G	ENSP00000420781.2:p.Phe1451Leu
ENST00000493919.6:c.981T>G	ENSP00000418819.2:p.Phe327Leu
ENST00000494123.6:c.4431T>G	ENSP00000419103.2:p.Phe1477Leu
ENST00000497488.2:c.3543T>G	ENSP00000418986.2:p.Phe1181Leu
ENST00000618469.2:c.4431T>G	ENSP00000478114.2:p.Phe1477Leu
ENST00000634433.2:c.4308T>G	ENSP00000489431.2:p.Phe1436Leu
ENST00000644379.2:c.4497T>G	ENSP00000496570.2:p.Phe1499Leu
ENST00000644555.2:c.981T>G	ENSP00000494614.2:p.Phe327Leu
ENST00000652672.2:c.4290T>G	ENSP00000498906.2:p.Phe1430Leu
ENST00000484087.6:c.993T>G	ENSP00000419481.2:p.Phe331Leu
ENST00000700182.1:c.1038T>G	ENSP00000514849.1:p.Phe346Leu
ENST00000357654.9:c.4431T>G MANE Select	ENSP00000350283.3:p.Phe1477Leu
ENST00000471181.7:c.4494T>G	ENSP00000418960.2:p.Phe1498Leu
ENST00000644379.1:c.818T>G
ENST00000352993.7:c.1005T>G	ENSP00000312236.5:p.Phe335Leu
ENST00000357654.7:c.4431T>G	ENSP00000350283.3:p.Phe1477Leu
ENST00000461221.5:c.*4214T>G	ENSP00000418548.1:n.*4214T>G
ENST00000461574.1:c.722T>G
ENST00000468300.5:c.1119T>G	ENSP00000417148.1:p.Phe373Leu
ENST00000471181.6:c.4494T>G	ENSP00000418960.2:p.Phe1498Leu
ENST00000478531.5:c.1119T>G	ENSP00000420412.1:p.Phe373Leu
ENST00000484087.5:c.744T>G	ENSP00000419481.1:p.Phe248Leu
ENST00000487825.5:c.747T>G	ENSP00000418212.1:p.Phe249Leu
ENST00000491747.6:c.1119T>G	ENSP00000420705.2:p.Phe373Leu
ENST00000493795.5:c.4290T>G	ENSP00000418775.1:p.Phe1430Leu
ENST00000493919.5:c.981T>G	ENSP00000418819.1:p.Phe327Leu
ENST00000586385.5:c.5-12590T>G	ENSP00000465818.1:n.5-12590T>G
ENST00000591534.5:c.-43-2020T>G	ENSP00000467329.1:n.-43-2020T>G
ENST00000591849.5:c.-98-26351T>G	ENSP00000465347.1:n.-98-26351T>G
ENST00000621897.1:n.322T>G
NM_007294.3:c.4431T>G , LRG_292t1:c.4431T>G	NP_009225.1:p.Phe1477Leu
NM_007297.3:c.4290T>G	NP_009228.2:p.Phe1430Leu
NM_007298.3:c.1119T>G	NP_009229.2:p.Phe373Leu
NM_007299.3:c.1119T>G	NP_009230.2:p.Phe373Leu
NM_007300.3:c.4494T>G	NP_009231.2:p.Phe1498Leu
NR_027676.1:n.4567T>G
NM_007294.4:c.4431T>G MANE Select	NP_009225.1:p.Phe1477Leu
NM_007297.4:c.4290T>G	NP_009228.2:p.Phe1430Leu
NM_007299.4:c.1119T>G	NP_009230.2:p.Phe373Leu
NM_007300.4:c.4494T>G	NP_009231.2:p.Phe1498Leu
NR_027676.2:n.4608T>G