Canonical Allele Identifier: CA10590717

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865396
• ClinVar RCV Id: RCV001072809 ; RCV002557889
• dbSNP Id: rs730881446
• MyVariant Identifiers: chr17:g.41201166T>C (hg19) ; chr17:g.43049149T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049149T>C , CM000679.2:g.43049149T>C	GRCh38
NC_000017.10:g.41201166T>C , CM000679.1:g.41201166T>C	GRCh37
NC_000017.9:g.38454692T>C	NCBI36
NG_005905.2:g.168835A>G , LRG_292:g.168835A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5375A>G	ENSP00000417241.2:p.Lys1792Arg
ENST00000470026.6:c.5378A>G	ENSP00000419274.2:p.Lys1793Arg
ENST00000473961.6:c.5252A>G	ENSP00000420201.2:p.Lys1751Arg
ENST00000476777.6:c.5372A>G	ENSP00000417554.2:p.Lys1791Arg
ENST00000477152.6:c.5300A>G	ENSP00000419988.2:p.Lys1767Arg
ENST00000478531.6:c.2066A>G	ENSP00000420412.2:p.Lys689Arg
ENST00000489037.2:c.5300A>G	ENSP00000420781.2:p.Lys1767Arg
ENST00000493919.6:c.1928A>G	ENSP00000418819.2:p.Lys643Arg
ENST00000494123.6:c.5378A>G	ENSP00000419103.2:p.Lys1793Arg
ENST00000497488.2:c.4490A>G	ENSP00000418986.2:p.Lys1497Arg
ENST00000618469.2:c.5378A>G	ENSP00000478114.2:p.Lys1793Arg
ENST00000634433.2:c.5255A>G	ENSP00000489431.2:p.Lys1752Arg
ENST00000644379.2:c.5444A>G	ENSP00000496570.2:p.Lys1815Arg
ENST00000644555.2:c.1928A>G	ENSP00000494614.2:p.Lys643Arg
ENST00000652672.2:c.5237A>G	ENSP00000498906.2:p.Lys1746Arg
ENST00000484087.6:c.1940A>G	ENSP00000419481.2:p.Lys647Arg
ENST00000700081.1:n.1261A>G
ENST00000357654.9:c.5378A>G MANE Select	ENSP00000350283.3:p.Lys1793Arg
ENST00000471181.7:c.5441A>G	ENSP00000418960.2:p.Lys1814Arg
ENST00000644379.1:c.1765A>G
ENST00000352993.7:c.1952A>G	ENSP00000312236.5:p.Lys651Arg
ENST00000357654.7:c.5378A>G	ENSP00000350283.3:p.Lys1793Arg
ENST00000461221.5:c.*5161A>G	ENSP00000418548.1:n.*5161A>G
ENST00000468300.5:c.2021-1446A>G	ENSP00000417148.1:n.2021-1446A>G
ENST00000471181.6:c.5441A>G	ENSP00000418960.2:p.Lys1814Arg
ENST00000491747.6:c.2066A>G	ENSP00000420705.2:p.Lys689Arg
ENST00000493795.5:c.5237A>G	ENSP00000418775.1:p.Lys1746Arg
ENST00000586385.5:c.308A>G	ENSP00000465818.1:p.Lys103Arg
ENST00000591534.5:c.851A>G	ENSP00000467329.1:p.Lys284Arg
ENST00000591849.5:c.77A>G	ENSP00000465347.1:p.Lys26Arg
NM_007294.3:c.5378A>G , LRG_292t1:c.5378A>G	NP_009225.1:p.Lys1793Arg
NM_007297.3:c.5237A>G	NP_009228.2:p.Lys1746Arg
NM_007298.3:c.2066A>G	NP_009229.2:p.Lys689Arg
NM_007299.3:c.2021-1446A>G	NP_009230.2:n.2021-1446A>G
NM_007300.3:c.5441A>G	NP_009231.2:p.Lys1814Arg
NR_027676.1:n.5514A>G
NM_007294.4:c.5378A>G MANE Select	NP_009225.1:p.Lys1793Arg
NM_007297.4:c.5237A>G	NP_009228.2:p.Lys1746Arg
NM_007299.4:c.2021-1446A>G	NP_009230.2:n.2021-1446A>G
NM_007300.4:c.5441A>G	NP_009231.2:p.Lys1814Arg
NR_027676.2:n.5555A>G