Canonical Allele Identifier: CA10591538

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868500
• ClinVar RCV Id: RCV001077413
• dbSNP Id: rs1467535423
• MyVariant Identifiers: chr17:g.41219709G>T (hg19) ; chr17:g.43067692G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067692G>T , CM000679.2:g.43067692G>T	GRCh38
NC_000017.10:g.41219709G>T , CM000679.1:g.41219709G>T	GRCh37
NC_000017.9:g.38473235G>T	NCBI36
NG_005905.2:g.150292C>A , LRG_292:g.150292C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4987C>A	ENSP00000417241.2:p.Leu1663Ile
ENST00000470026.6:c.4990C>A	ENSP00000419274.2:p.Leu1664Ile
ENST00000473961.6:c.4864C>A	ENSP00000420201.2:p.Leu1622Ile
ENST00000476777.6:c.4984C>A	ENSP00000417554.2:p.Leu1662Ile
ENST00000477152.6:c.4912C>A	ENSP00000419988.2:p.Leu1638Ile
ENST00000478531.6:c.1678C>A	ENSP00000420412.2:p.Leu560Ile
ENST00000489037.2:c.4912C>A	ENSP00000420781.2:p.Leu1638Ile
ENST00000493919.6:c.1540C>A	ENSP00000418819.2:p.Leu514Ile
ENST00000494123.6:c.4990C>A	ENSP00000419103.2:p.Leu1664Ile
ENST00000497488.2:c.4102C>A	ENSP00000418986.2:p.Leu1368Ile
ENST00000618469.2:c.4990C>A	ENSP00000478114.2:p.Leu1664Ile
ENST00000634433.2:c.4867C>A	ENSP00000489431.2:p.Leu1623Ile
ENST00000644379.2:c.5056C>A	ENSP00000496570.2:p.Leu1686Ile
ENST00000644555.2:c.1540C>A	ENSP00000494614.2:p.Leu514Ile
ENST00000652672.2:c.4849C>A	ENSP00000498906.2:p.Leu1617Ile
ENST00000484087.6:c.1552C>A	ENSP00000419481.2:p.Leu518Ile
ENST00000357654.9:c.4990C>A MANE Select	ENSP00000350283.3:p.Leu1664Ile
ENST00000471181.7:c.5053C>A	ENSP00000418960.2:p.Leu1685Ile
ENST00000644379.1:c.1377C>A
ENST00000352993.7:c.1564C>A	ENSP00000312236.5:p.Leu522Ile
ENST00000357654.7:c.4990C>A	ENSP00000350283.3:p.Leu1664Ile
ENST00000461221.5:c.*4773C>A	ENSP00000418548.1:n.*4773C>A
ENST00000468300.5:c.1678C>A	ENSP00000417148.1:p.Leu560Ile
ENST00000471181.6:c.5053C>A	ENSP00000418960.2:p.Leu1685Ile
ENST00000472490.1:n.143C>A
ENST00000478531.5:c.1678C>A	ENSP00000420412.1:p.Leu560Ile
ENST00000484087.5:c.1303C>A	ENSP00000419481.1:p.Leu435Ile
ENST00000491747.6:c.1678C>A	ENSP00000420705.2:p.Leu560Ile
ENST00000493795.5:c.4849C>A	ENSP00000418775.1:p.Leu1617Ile
ENST00000493919.5:c.1540C>A	ENSP00000418819.1:p.Leu514Ile
ENST00000586385.5:c.5-3741C>A	ENSP00000465818.1:n.5-3741C>A
ENST00000591534.5:c.463C>A	ENSP00000467329.1:p.Leu155Ile
ENST00000591849.5:c.-98-17502C>A	ENSP00000465347.1:n.-98-17502C>A
NM_007294.3:c.4990C>A , LRG_292t1:c.4990C>A	NP_009225.1:p.Leu1664Ile
NM_007297.3:c.4849C>A	NP_009228.2:p.Leu1617Ile
NM_007298.3:c.1678C>A	NP_009229.2:p.Leu560Ile
NM_007299.3:c.1678C>A	NP_009230.2:p.Leu560Ile
NM_007300.3:c.5053C>A	NP_009231.2:p.Leu1685Ile
NR_027676.1:n.5126C>A
NM_007294.4:c.4990C>A MANE Select	NP_009225.1:p.Leu1664Ile
NM_007297.4:c.4849C>A	NP_009228.2:p.Leu1617Ile
NM_007299.4:c.1678C>A	NP_009230.2:p.Leu560Ile
NM_007300.4:c.5053C>A	NP_009231.2:p.Leu1685Ile
NR_027676.2:n.5167C>A