Canonical Allele Identifier: CA10599147

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41246101T>G (hg19) ; chr17:g.43094084T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094084T>G , CM000679.2:g.43094084T>G	GRCh38
NC_000017.10:g.41246101T>G , CM000679.1:g.41246101T>G	GRCh37
NC_000017.9:g.38499627T>G	NCBI36
NG_005905.2:g.123900A>C , LRG_292:g.123900A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1511A>C
ENST00000461574.2:c.1447A>C	ENSP00000417241.2:p.Ile483Leu
ENST00000470026.6:c.1447A>C	ENSP00000419274.2:p.Ile483Leu
ENST00000473961.6:c.1321A>C	ENSP00000420201.2:p.Ile441Leu
ENST00000476777.6:c.1444A>C	ENSP00000417554.2:p.Ile482Leu
ENST00000477152.6:c.1369A>C	ENSP00000419988.2:p.Ile457Leu
ENST00000478531.6:c.784+660A>C	ENSP00000420412.2:n.784+660A>C
ENST00000489037.2:c.1369A>C	ENSP00000420781.2:p.Ile457Leu
ENST00000493919.6:c.646+660A>C	ENSP00000418819.2:n.646+660A>C
ENST00000494123.6:c.1447A>C	ENSP00000419103.2:p.Ile483Leu
ENST00000497488.2:c.559A>C	ENSP00000418986.2:p.Ile187Leu
ENST00000618469.2:c.1447A>C	ENSP00000478114.2:p.Ile483Leu
ENST00000634433.2:c.1324A>C	ENSP00000489431.2:p.Ile442Leu
ENST00000644379.2:c.1447A>C	ENSP00000496570.2:p.Ile483Leu
ENST00000644555.2:c.646+660A>C	ENSP00000494614.2:n.646+660A>C
ENST00000652672.2:c.1306A>C	ENSP00000498906.2:p.Ile436Leu
ENST00000484087.6:c.664+660A>C	ENSP00000419481.2:n.664+660A>C
ENST00000700182.1:c.706+660A>C	ENSP00000514849.1:n.706+660A>C
ENST00000700183.1:c.*1455A>C	ENSP00000514850.1:n.*1455A>C
ENST00000357654.9:c.1447A>C MANE Select	ENSP00000350283.3:p.Ile483Leu
ENST00000471181.7:c.1447A>C	ENSP00000418960.2:p.Ile483Leu
ENST00000652672.1:c.1306A>C	ENSP00000498906.1:p.Ile436Leu
ENST00000352993.7:c.670+1762A>C	ENSP00000312236.5:n.670+1762A>C
ENST00000354071.7:c.1447A>C	ENSP00000326002.7:p.Ile483Leu
ENST00000357654.7:c.1447A>C	ENSP00000350283.3:p.Ile483Leu
ENST00000412061.3:c.798A>C
ENST00000461221.5:c.*1230A>C	ENSP00000418548.1:n.*1230A>C
ENST00000468300.5:c.787+660A>C	ENSP00000417148.1:n.787+660A>C
ENST00000470026.5:c.1447A>C	ENSP00000419274.1:p.Ile483Leu
ENST00000471181.6:c.1447A>C	ENSP00000418960.2:p.Ile483Leu
ENST00000477152.5:c.1369A>C	ENSP00000419988.1:p.Ile457Leu
ENST00000478531.5:c.784+660A>C	ENSP00000420412.1:n.784+660A>C
ENST00000484087.5:c.409+660A>C	ENSP00000419481.1:n.409+660A>C
ENST00000487825.5:c.412+660A>C	ENSP00000418212.1:n.412+660A>C
ENST00000491747.6:c.787+660A>C	ENSP00000420705.2:n.787+660A>C
ENST00000493795.5:c.1306A>C	ENSP00000418775.1:p.Ile436Leu
ENST00000493919.5:c.646+660A>C	ENSP00000418819.1:n.646+660A>C
ENST00000586385.5:c.5-30133A>C	ENSP00000465818.1:n.5-30133A>C
ENST00000591534.5:c.-43-19563A>C	ENSP00000467329.1:n.-43-19563A>C
ENST00000591849.5:c.-99+31187A>C	ENSP00000465347.1:n.-99+31187A>C
ENST00000634433.1:c.1324A>C	ENSP00000489431.1:p.Ile442Leu
NM_007294.3:c.1447A>C , LRG_292t1:c.1447A>C	NP_009225.1:p.Ile483Leu
NM_007297.3:c.1306A>C	NP_009228.2:p.Ile436Leu
NM_007298.3:c.787+660A>C	NP_009229.2:n.787+660A>C
NM_007299.3:c.787+660A>C	NP_009230.2:n.787+660A>C
NM_007300.3:c.1447A>C	NP_009231.2:p.Ile483Leu
NR_027676.1:n.1583A>C
NM_007294.4:c.1447A>C MANE Select	NP_009225.1:p.Ile483Leu
NM_007297.4:c.1306A>C	NP_009228.2:p.Ile436Leu
NM_007299.4:c.787+660A>C	NP_009230.2:n.787+660A>C
NM_007300.4:c.1447A>C	NP_009231.2:p.Ile483Leu
NR_027676.2:n.1624A>C