Canonical Allele Identifier: CA10591411

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 864885
• ClinVar RCV Id: RCV001072172
• dbSNP Id: rs80357043
• MyVariant Identifiers: chr17:g.41219645G>T (hg19) ; chr17:g.43067628G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067628G>T , CM000679.2:g.43067628G>T	GRCh38
NC_000017.10:g.41219645G>T , CM000679.1:g.41219645G>T	GRCh37
NC_000017.9:g.38473171G>T	NCBI36
NG_005905.2:g.150356C>A , LRG_292:g.150356C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5051C>A	ENSP00000417241.2:p.Thr1684Asn
ENST00000470026.6:c.5054C>A	ENSP00000419274.2:p.Thr1685Asn
ENST00000473961.6:c.4928C>A	ENSP00000420201.2:p.Thr1643Asn
ENST00000476777.6:c.5048C>A	ENSP00000417554.2:p.Thr1683Asn
ENST00000477152.6:c.4976C>A	ENSP00000419988.2:p.Thr1659Asn
ENST00000478531.6:c.1742C>A	ENSP00000420412.2:p.Thr581Asn
ENST00000489037.2:c.4976C>A	ENSP00000420781.2:p.Thr1659Asn
ENST00000493919.6:c.1604C>A	ENSP00000418819.2:p.Thr535Asn
ENST00000494123.6:c.5054C>A	ENSP00000419103.2:p.Thr1685Asn
ENST00000497488.2:c.4166C>A	ENSP00000418986.2:p.Thr1389Asn
ENST00000618469.2:c.5054C>A	ENSP00000478114.2:p.Thr1685Asn
ENST00000634433.2:c.4931C>A	ENSP00000489431.2:p.Thr1644Asn
ENST00000644379.2:c.5120C>A	ENSP00000496570.2:p.Thr1707Asn
ENST00000644555.2:c.1604C>A	ENSP00000494614.2:p.Thr535Asn
ENST00000652672.2:c.4913C>A	ENSP00000498906.2:p.Thr1638Asn
ENST00000484087.6:c.1616C>A	ENSP00000419481.2:p.Thr539Asn
ENST00000357654.9:c.5054C>A MANE Select	ENSP00000350283.3:p.Thr1685Asn
ENST00000471181.7:c.5117C>A	ENSP00000418960.2:p.Thr1706Asn
ENST00000644379.1:c.1441C>A
ENST00000352993.7:c.1628C>A	ENSP00000312236.5:p.Thr543Asn
ENST00000357654.7:c.5054C>A	ENSP00000350283.3:p.Thr1685Asn
ENST00000461221.5:c.*4837C>A	ENSP00000418548.1:n.*4837C>A
ENST00000468300.5:c.1742C>A	ENSP00000417148.1:p.Thr581Asn
ENST00000471181.6:c.5117C>A	ENSP00000418960.2:p.Thr1706Asn
ENST00000472490.1:n.207C>A
ENST00000478531.5:c.1742C>A	ENSP00000420412.1:p.Thr581Asn
ENST00000484087.5:c.1367C>A	ENSP00000419481.1:p.Thr456Asn
ENST00000491747.6:c.1742C>A	ENSP00000420705.2:p.Thr581Asn
ENST00000493795.5:c.4913C>A	ENSP00000418775.1:p.Thr1638Asn
ENST00000493919.5:c.1604C>A	ENSP00000418819.1:p.Thr535Asn
ENST00000586385.5:c.5-3677C>A	ENSP00000465818.1:n.5-3677C>A
ENST00000591534.5:c.527C>A	ENSP00000467329.1:p.Thr176Asn
ENST00000591849.5:c.-98-17438C>A	ENSP00000465347.1:n.-98-17438C>A
NM_007294.3:c.5054C>A , LRG_292t1:c.5054C>A	NP_009225.1:p.Thr1685Asn
NM_007297.3:c.4913C>A	NP_009228.2:p.Thr1638Asn
NM_007298.3:c.1742C>A	NP_009229.2:p.Thr581Asn
NM_007299.3:c.1742C>A	NP_009230.2:p.Thr581Asn
NM_007300.3:c.5117C>A	NP_009231.2:p.Thr1706Asn
NR_027676.1:n.5190C>A
NM_007294.4:c.5054C>A MANE Select	NP_009225.1:p.Thr1685Asn
NM_007297.4:c.4913C>A	NP_009228.2:p.Thr1638Asn
NM_007299.4:c.1742C>A	NP_009230.2:p.Thr581Asn
NM_007300.4:c.5117C>A	NP_009231.2:p.Thr1706Asn
NR_027676.2:n.5231C>A