Canonical Allele Identifier: CA10591414

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868966
• ClinVar RCV Id: RCV001077971
• dbSNP Id: rs2052164896
• MyVariant Identifiers: chr17:g.41219648G>A (hg19) ; chr17:g.43067631G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067631G>A , CM000679.2:g.43067631G>A	GRCh38
NC_000017.10:g.41219648G>A , CM000679.1:g.41219648G>A	GRCh37
NC_000017.9:g.38473174G>A	NCBI36
NG_005905.2:g.150353C>T , LRG_292:g.150353C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5048C>T	ENSP00000417241.2:p.Thr1683Ile
ENST00000470026.6:c.5051C>T	ENSP00000419274.2:p.Thr1684Ile
ENST00000473961.6:c.4925C>T	ENSP00000420201.2:p.Thr1642Ile
ENST00000476777.6:c.5045C>T	ENSP00000417554.2:p.Thr1682Ile
ENST00000477152.6:c.4973C>T	ENSP00000419988.2:p.Thr1658Ile
ENST00000478531.6:c.1739C>T	ENSP00000420412.2:p.Thr580Ile
ENST00000489037.2:c.4973C>T	ENSP00000420781.2:p.Thr1658Ile
ENST00000493919.6:c.1601C>T	ENSP00000418819.2:p.Thr534Ile
ENST00000494123.6:c.5051C>T	ENSP00000419103.2:p.Thr1684Ile
ENST00000497488.2:c.4163C>T	ENSP00000418986.2:p.Thr1388Ile
ENST00000618469.2:c.5051C>T	ENSP00000478114.2:p.Thr1684Ile
ENST00000634433.2:c.4928C>T	ENSP00000489431.2:p.Thr1643Ile
ENST00000644379.2:c.5117C>T	ENSP00000496570.2:p.Thr1706Ile
ENST00000644555.2:c.1601C>T	ENSP00000494614.2:p.Thr534Ile
ENST00000652672.2:c.4910C>T	ENSP00000498906.2:p.Thr1637Ile
ENST00000484087.6:c.1613C>T	ENSP00000419481.2:p.Thr538Ile
ENST00000357654.9:c.5051C>T MANE Select	ENSP00000350283.3:p.Thr1684Ile
ENST00000471181.7:c.5114C>T	ENSP00000418960.2:p.Thr1705Ile
ENST00000644379.1:c.1438C>T
ENST00000352993.7:c.1625C>T	ENSP00000312236.5:p.Thr542Ile
ENST00000357654.7:c.5051C>T	ENSP00000350283.3:p.Thr1684Ile
ENST00000461221.5:c.*4834C>T	ENSP00000418548.1:n.*4834C>T
ENST00000468300.5:c.1739C>T	ENSP00000417148.1:p.Thr580Ile
ENST00000471181.6:c.5114C>T	ENSP00000418960.2:p.Thr1705Ile
ENST00000472490.1:n.204C>T
ENST00000478531.5:c.1739C>T	ENSP00000420412.1:p.Thr580Ile
ENST00000484087.5:c.1364C>T	ENSP00000419481.1:p.Thr455Ile
ENST00000491747.6:c.1739C>T	ENSP00000420705.2:p.Thr580Ile
ENST00000493795.5:c.4910C>T	ENSP00000418775.1:p.Thr1637Ile
ENST00000493919.5:c.1601C>T	ENSP00000418819.1:p.Thr534Ile
ENST00000586385.5:c.5-3680C>T	ENSP00000465818.1:n.5-3680C>T
ENST00000591534.5:c.524C>T	ENSP00000467329.1:p.Thr175Ile
ENST00000591849.5:c.-98-17441C>T	ENSP00000465347.1:n.-98-17441C>T
NM_007294.3:c.5051C>T , LRG_292t1:c.5051C>T	NP_009225.1:p.Thr1684Ile
NM_007297.3:c.4910C>T	NP_009228.2:p.Thr1637Ile
NM_007298.3:c.1739C>T	NP_009229.2:p.Thr580Ile
NM_007299.3:c.1739C>T	NP_009230.2:p.Thr580Ile
NM_007300.3:c.5114C>T	NP_009231.2:p.Thr1705Ile
NR_027676.1:n.5187C>T
NM_007294.4:c.5051C>T MANE Select	NP_009225.1:p.Thr1684Ile
NM_007297.4:c.4910C>T	NP_009228.2:p.Thr1637Ile
NM_007299.4:c.1739C>T	NP_009230.2:p.Thr580Ile
NM_007300.4:c.5114C>T	NP_009231.2:p.Thr1705Ile
NR_027676.2:n.5228C>T