Canonical Allele Identifier: CA058714

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 665745
• ClinVar RCV Id: RCV000824094 ; RCV003158255
• dbSNP Id: rs760810832
• ExAC: 17:41245306 T / C
• MyVariant Identifiers: chr17:g.41245306T>C (hg19) ; chr17:g.43093289T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093289T>C , CM000679.2:g.43093289T>C	GRCh38
NC_000017.10:g.41245306T>C , CM000679.1:g.41245306T>C	GRCh37
NC_000017.9:g.38498832T>C	NCBI36
NG_005905.2:g.124695A>G , LRG_292:g.124695A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2306A>G
ENST00000461574.2:c.2242A>G	ENSP00000417241.2:p.Lys748Glu
ENST00000470026.6:c.2242A>G	ENSP00000419274.2:p.Lys748Glu
ENST00000473961.6:c.2116A>G	ENSP00000420201.2:p.Lys706Glu
ENST00000476777.6:c.2239A>G	ENSP00000417554.2:p.Lys747Glu
ENST00000477152.6:c.2164A>G	ENSP00000419988.2:p.Lys722Glu
ENST00000478531.6:c.784+1455A>G	ENSP00000420412.2:n.784+1455A>G
ENST00000489037.2:c.2164A>G	ENSP00000420781.2:p.Lys722Glu
ENST00000493919.6:c.646+1455A>G	ENSP00000418819.2:n.646+1455A>G
ENST00000494123.6:c.2242A>G	ENSP00000419103.2:p.Lys748Glu
ENST00000497488.2:c.1354A>G	ENSP00000418986.2:p.Lys452Glu
ENST00000618469.2:c.2242A>G	ENSP00000478114.2:p.Lys748Glu
ENST00000634433.2:c.2119A>G	ENSP00000489431.2:p.Lys707Glu
ENST00000644379.2:c.2242A>G	ENSP00000496570.2:p.Lys748Glu
ENST00000644555.2:c.646+1455A>G	ENSP00000494614.2:n.646+1455A>G
ENST00000652672.2:c.2101A>G	ENSP00000498906.2:p.Lys701Glu
ENST00000484087.6:c.664+1455A>G	ENSP00000419481.2:n.664+1455A>G
ENST00000700182.1:c.706+1455A>G	ENSP00000514849.1:n.706+1455A>G
ENST00000357654.9:c.2242A>G MANE Select	ENSP00000350283.3:p.Lys748Glu
ENST00000471181.7:c.2242A>G	ENSP00000418960.2:p.Lys748Glu
ENST00000352993.7:c.671-2257A>G	ENSP00000312236.5:n.671-2257A>G
ENST00000354071.7:c.2242A>G	ENSP00000326002.7:p.Lys748Glu
ENST00000357654.7:c.2242A>G	ENSP00000350283.3:p.Lys748Glu
ENST00000461221.5:c.*2025A>G	ENSP00000418548.1:n.*2025A>G
ENST00000468300.5:c.787+1455A>G	ENSP00000417148.1:n.787+1455A>G
ENST00000471181.6:c.2242A>G	ENSP00000418960.2:p.Lys748Glu
ENST00000478531.5:c.784+1455A>G	ENSP00000420412.1:n.784+1455A>G
ENST00000484087.5:c.409+1455A>G	ENSP00000419481.1:n.409+1455A>G
ENST00000487825.5:c.412+1455A>G	ENSP00000418212.1:n.412+1455A>G
ENST00000491747.6:c.787+1455A>G	ENSP00000420705.2:n.787+1455A>G
ENST00000493795.5:c.2101A>G	ENSP00000418775.1:p.Lys701Glu
ENST00000493919.5:c.646+1455A>G	ENSP00000418819.1:n.646+1455A>G
ENST00000586385.5:c.5-29338A>G	ENSP00000465818.1:n.5-29338A>G
ENST00000591534.5:c.-43-18768A>G	ENSP00000467329.1:n.-43-18768A>G
ENST00000591849.5:c.-99+31982A>G	ENSP00000465347.1:n.-99+31982A>G
ENST00000634433.1:c.2119A>G	ENSP00000489431.1:p.Lys707Glu
NM_007294.3:c.2242A>G , LRG_292t1:c.2242A>G	NP_009225.1:p.Lys748Glu
NM_007297.3:c.2101A>G	NP_009228.2:p.Lys701Glu
NM_007298.3:c.787+1455A>G	NP_009229.2:n.787+1455A>G
NM_007299.3:c.787+1455A>G	NP_009230.2:n.787+1455A>G
NM_007300.3:c.2242A>G	NP_009231.2:p.Lys748Glu
NR_027676.1:n.2378A>G
NM_007294.4:c.2242A>G MANE Select	NP_009225.1:p.Lys748Glu
NM_007297.4:c.2101A>G	NP_009228.2:p.Lys701Glu
NM_007299.4:c.787+1455A>G	NP_009230.2:n.787+1455A>G
NM_007300.4:c.2242A>G	NP_009231.2:p.Lys748Glu
NR_027676.2:n.2419A>G