Canonical Allele Identifier: CA10591432

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 864873
• ClinVar RCV Id: RCV001072156
• dbSNP Id: rs766784305
• MyVariant Identifiers: chr17:g.41219657G>C (hg19) ; chr17:g.43067640G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067640G>C , CM000679.2:g.43067640G>C	GRCh38
NC_000017.10:g.41219657G>C , CM000679.1:g.41219657G>C	GRCh37
NC_000017.9:g.38473183G>C	NCBI36
NG_005905.2:g.150344C>G , LRG_292:g.150344C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5039C>G	ENSP00000417241.2:p.Thr1680Ser
ENST00000470026.6:c.5042C>G	ENSP00000419274.2:p.Thr1681Ser
ENST00000473961.6:c.4916C>G	ENSP00000420201.2:p.Thr1639Ser
ENST00000476777.6:c.5036C>G	ENSP00000417554.2:p.Thr1679Ser
ENST00000477152.6:c.4964C>G	ENSP00000419988.2:p.Thr1655Ser
ENST00000478531.6:c.1730C>G	ENSP00000420412.2:p.Thr577Ser
ENST00000489037.2:c.4964C>G	ENSP00000420781.2:p.Thr1655Ser
ENST00000493919.6:c.1592C>G	ENSP00000418819.2:p.Thr531Ser
ENST00000494123.6:c.5042C>G	ENSP00000419103.2:p.Thr1681Ser
ENST00000497488.2:c.4154C>G	ENSP00000418986.2:p.Thr1385Ser
ENST00000618469.2:c.5042C>G	ENSP00000478114.2:p.Thr1681Ser
ENST00000634433.2:c.4919C>G	ENSP00000489431.2:p.Thr1640Ser
ENST00000644379.2:c.5108C>G	ENSP00000496570.2:p.Thr1703Ser
ENST00000644555.2:c.1592C>G	ENSP00000494614.2:p.Thr531Ser
ENST00000652672.2:c.4901C>G	ENSP00000498906.2:p.Thr1634Ser
ENST00000484087.6:c.1604C>G	ENSP00000419481.2:p.Thr535Ser
ENST00000357654.9:c.5042C>G MANE Select	ENSP00000350283.3:p.Thr1681Ser
ENST00000471181.7:c.5105C>G	ENSP00000418960.2:p.Thr1702Ser
ENST00000644379.1:c.1429C>G
ENST00000352993.7:c.1616C>G	ENSP00000312236.5:p.Thr539Ser
ENST00000357654.7:c.5042C>G	ENSP00000350283.3:p.Thr1681Ser
ENST00000461221.5:c.*4825C>G	ENSP00000418548.1:n.*4825C>G
ENST00000468300.5:c.1730C>G	ENSP00000417148.1:p.Thr577Ser
ENST00000471181.6:c.5105C>G	ENSP00000418960.2:p.Thr1702Ser
ENST00000472490.1:n.195C>G
ENST00000478531.5:c.1730C>G	ENSP00000420412.1:p.Thr577Ser
ENST00000484087.5:c.1355C>G	ENSP00000419481.1:p.Thr452Ser
ENST00000491747.6:c.1730C>G	ENSP00000420705.2:p.Thr577Ser
ENST00000493795.5:c.4901C>G	ENSP00000418775.1:p.Thr1634Ser
ENST00000493919.5:c.1592C>G	ENSP00000418819.1:p.Thr531Ser
ENST00000586385.5:c.5-3689C>G	ENSP00000465818.1:n.5-3689C>G
ENST00000591534.5:c.515C>G	ENSP00000467329.1:p.Thr172Ser
ENST00000591849.5:c.-98-17450C>G	ENSP00000465347.1:n.-98-17450C>G
NM_007294.3:c.5042C>G , LRG_292t1:c.5042C>G	NP_009225.1:p.Thr1681Ser
NM_007297.3:c.4901C>G	NP_009228.2:p.Thr1634Ser
NM_007298.3:c.1730C>G	NP_009229.2:p.Thr577Ser
NM_007299.3:c.1730C>G	NP_009230.2:p.Thr577Ser
NM_007300.3:c.5105C>G	NP_009231.2:p.Thr1702Ser
NR_027676.1:n.5178C>G
NM_007294.4:c.5042C>G MANE Select	NP_009225.1:p.Thr1681Ser
NM_007297.4:c.4901C>G	NP_009228.2:p.Thr1634Ser
NM_007299.4:c.1730C>G	NP_009230.2:p.Thr577Ser
NM_007300.4:c.5105C>G	NP_009231.2:p.Thr1702Ser
NR_027676.2:n.5219C>G