Canonical Allele Identifier: CA10591048

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867278
• ClinVar RCV Id: RCV001075929
• dbSNP Id: rs2051506626
• MyVariant Identifiers: chr17:g.41209097T>A (hg19) ; chr17:g.43057080T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057080T>A , CM000679.2:g.43057080T>A	GRCh38
NC_000017.10:g.41209097T>A , CM000679.1:g.41209097T>A	GRCh37
NC_000017.9:g.38462623T>A	NCBI36
NG_005905.2:g.160904A>T , LRG_292:g.160904A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5246A>T	ENSP00000417241.2:p.Lys1749Met
ENST00000470026.6:c.5249A>T	ENSP00000419274.2:p.Lys1750Met
ENST00000473961.6:c.5123A>T	ENSP00000420201.2:p.Lys1708Met
ENST00000476777.6:c.5243A>T	ENSP00000417554.2:p.Lys1748Met
ENST00000477152.6:c.5171A>T	ENSP00000419988.2:p.Lys1724Met
ENST00000478531.6:c.1937A>T	ENSP00000420412.2:p.Lys646Met
ENST00000489037.2:c.5171A>T	ENSP00000420781.2:p.Lys1724Met
ENST00000493919.6:c.1799A>T	ENSP00000418819.2:p.Lys600Met
ENST00000494123.6:c.5249A>T	ENSP00000419103.2:p.Lys1750Met
ENST00000497488.2:c.4361A>T	ENSP00000418986.2:p.Lys1454Met
ENST00000618469.2:c.5249A>T	ENSP00000478114.2:p.Lys1750Met
ENST00000634433.2:c.5126A>T	ENSP00000489431.2:p.Lys1709Met
ENST00000644379.2:c.5315A>T	ENSP00000496570.2:p.Lys1772Met
ENST00000644555.2:c.1799A>T	ENSP00000494614.2:p.Lys600Met
ENST00000652672.2:c.5108A>T	ENSP00000498906.2:p.Lys1703Met
ENST00000484087.6:c.1811A>T	ENSP00000419481.2:p.Lys604Met
ENST00000357654.9:c.5249A>T MANE Select	ENSP00000350283.3:p.Lys1750Met
ENST00000471181.7:c.5312A>T	ENSP00000418960.2:p.Lys1771Met
ENST00000644379.1:c.1636A>T
ENST00000352993.7:c.1823A>T	ENSP00000312236.5:p.Lys608Met
ENST00000357654.7:c.5249A>T	ENSP00000350283.3:p.Lys1750Met
ENST00000461221.5:c.*5032A>T	ENSP00000418548.1:n.*5032A>T
ENST00000468300.5:c.1937A>T	ENSP00000417148.1:p.Lys646Met
ENST00000471181.6:c.5312A>T	ENSP00000418960.2:p.Lys1771Met
ENST00000491747.6:c.1937A>T	ENSP00000420705.2:p.Lys646Met
ENST00000493795.5:c.5108A>T	ENSP00000418775.1:p.Lys1703Met
ENST00000586385.5:c.179A>T	ENSP00000465818.1:p.Lys60Met
ENST00000591534.5:c.722A>T	ENSP00000467329.1:p.Lys241Met
ENST00000591849.5:c.-98-6890A>T	ENSP00000465347.1:n.-98-6890A>T
NM_007294.3:c.5249A>T , LRG_292t1:c.5249A>T	NP_009225.1:p.Lys1750Met
NM_007297.3:c.5108A>T	NP_009228.2:p.Lys1703Met
NM_007298.3:c.1937A>T	NP_009229.2:p.Lys646Met
NM_007299.3:c.1937A>T	NP_009230.2:p.Lys646Met
NM_007300.3:c.5312A>T	NP_009231.2:p.Lys1771Met
NR_027676.1:n.5385A>T
NM_007294.4:c.5249A>T MANE Select	NP_009225.1:p.Lys1750Met
NM_007297.4:c.5108A>T	NP_009228.2:p.Lys1703Met
NM_007299.4:c.1937A>T	NP_009230.2:p.Lys646Met
NM_007300.4:c.5312A>T	NP_009231.2:p.Lys1771Met
NR_027676.2:n.5426A>T