Canonical Allele Identifier: CA10591522

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 489727
• ClinVar RCV Id: RCV000579785 ; RCV001076926 ; RCV001229350
• dbSNP Id: rs80357204
• gnomAD v2: 17-41219700-T-C
• gnomAD v4: 17-43067683-T-C
• MyVariant Identifiers: chr17:g.41219700T>C (hg19) ; chr17:g.43067683T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067683T>C , CM000679.2:g.43067683T>C	GRCh38
NC_000017.10:g.41219700T>C , CM000679.1:g.41219700T>C	GRCh37
NC_000017.9:g.38473226T>C	NCBI36
NG_005905.2:g.150301A>G , LRG_292:g.150301A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4996A>G	ENSP00000417241.2:p.Lys1666Glu
ENST00000470026.6:c.4999A>G	ENSP00000419274.2:p.Lys1667Glu
ENST00000473961.6:c.4873A>G	ENSP00000420201.2:p.Lys1625Glu
ENST00000476777.6:c.4993A>G	ENSP00000417554.2:p.Lys1665Glu
ENST00000477152.6:c.4921A>G	ENSP00000419988.2:p.Lys1641Glu
ENST00000478531.6:c.1687A>G	ENSP00000420412.2:p.Lys563Glu
ENST00000489037.2:c.4921A>G	ENSP00000420781.2:p.Lys1641Glu
ENST00000493919.6:c.1549A>G	ENSP00000418819.2:p.Lys517Glu
ENST00000494123.6:c.4999A>G	ENSP00000419103.2:p.Lys1667Glu
ENST00000497488.2:c.4111A>G	ENSP00000418986.2:p.Lys1371Glu
ENST00000618469.2:c.4999A>G	ENSP00000478114.2:p.Lys1667Glu
ENST00000634433.2:c.4876A>G	ENSP00000489431.2:p.Lys1626Glu
ENST00000644379.2:c.5065A>G	ENSP00000496570.2:p.Lys1689Glu
ENST00000644555.2:c.1549A>G	ENSP00000494614.2:p.Lys517Glu
ENST00000652672.2:c.4858A>G	ENSP00000498906.2:p.Lys1620Glu
ENST00000484087.6:c.1561A>G	ENSP00000419481.2:p.Lys521Glu
ENST00000357654.9:c.4999A>G MANE Select	ENSP00000350283.3:p.Lys1667Glu
ENST00000471181.7:c.5062A>G	ENSP00000418960.2:p.Lys1688Glu
ENST00000644379.1:c.1386A>G
ENST00000352993.7:c.1573A>G	ENSP00000312236.5:p.Lys525Glu
ENST00000357654.7:c.4999A>G	ENSP00000350283.3:p.Lys1667Glu
ENST00000461221.5:c.*4782A>G	ENSP00000418548.1:n.*4782A>G
ENST00000468300.5:c.1687A>G	ENSP00000417148.1:p.Lys563Glu
ENST00000471181.6:c.5062A>G	ENSP00000418960.2:p.Lys1688Glu
ENST00000472490.1:n.152A>G
ENST00000478531.5:c.1687A>G	ENSP00000420412.1:p.Lys563Glu
ENST00000484087.5:c.1312A>G	ENSP00000419481.1:p.Lys438Glu
ENST00000491747.6:c.1687A>G	ENSP00000420705.2:p.Lys563Glu
ENST00000493795.5:c.4858A>G	ENSP00000418775.1:p.Lys1620Glu
ENST00000493919.5:c.1549A>G	ENSP00000418819.1:p.Lys517Glu
ENST00000586385.5:c.5-3732A>G	ENSP00000465818.1:n.5-3732A>G
ENST00000591534.5:c.472A>G	ENSP00000467329.1:p.Lys158Glu
ENST00000591849.5:c.-98-17493A>G	ENSP00000465347.1:n.-98-17493A>G
NM_007294.3:c.4999A>G , LRG_292t1:c.4999A>G	NP_009225.1:p.Lys1667Glu
NM_007297.3:c.4858A>G	NP_009228.2:p.Lys1620Glu
NM_007298.3:c.1687A>G	NP_009229.2:p.Lys563Glu
NM_007299.3:c.1687A>G	NP_009230.2:p.Lys563Glu
NM_007300.3:c.5062A>G	NP_009231.2:p.Lys1688Glu
NR_027676.1:n.5135A>G
NM_007294.4:c.4999A>G MANE Select	NP_009225.1:p.Lys1667Glu
NM_007297.4:c.4858A>G	NP_009228.2:p.Lys1620Glu
NM_007299.4:c.1687A>G	NP_009230.2:p.Lys563Glu
NM_007300.4:c.5062A>G	NP_009231.2:p.Lys1688Glu
NR_027676.2:n.5176A>G