Canonical Allele Identifier: CA10591465

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1744853
• ClinVar RCV Id: RCV002335585
• dbSNP Id: rs150729791
• MyVariant Identifiers: chr17:g.41219675G>C (hg19) ; chr17:g.43067658G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067658G>C , CM000679.2:g.43067658G>C	GRCh38
NC_000017.10:g.41219675G>C , CM000679.1:g.41219675G>C	GRCh37
NC_000017.9:g.38473201G>C	NCBI36
NG_005905.2:g.150326C>G , LRG_292:g.150326C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5021C>G	ENSP00000417241.2:p.Thr1674Ser
ENST00000470026.6:c.5024C>G	ENSP00000419274.2:p.Thr1675Ser
ENST00000473961.6:c.4898C>G	ENSP00000420201.2:p.Thr1633Ser
ENST00000476777.6:c.5018C>G	ENSP00000417554.2:p.Thr1673Ser
ENST00000477152.6:c.4946C>G	ENSP00000419988.2:p.Thr1649Ser
ENST00000478531.6:c.1712C>G	ENSP00000420412.2:p.Thr571Ser
ENST00000489037.2:c.4946C>G	ENSP00000420781.2:p.Thr1649Ser
ENST00000493919.6:c.1574C>G	ENSP00000418819.2:p.Thr525Ser
ENST00000494123.6:c.5024C>G	ENSP00000419103.2:p.Thr1675Ser
ENST00000497488.2:c.4136C>G	ENSP00000418986.2:p.Thr1379Ser
ENST00000618469.2:c.5024C>G	ENSP00000478114.2:p.Thr1675Ser
ENST00000634433.2:c.4901C>G	ENSP00000489431.2:p.Thr1634Ser
ENST00000644379.2:c.5090C>G	ENSP00000496570.2:p.Thr1697Ser
ENST00000644555.2:c.1574C>G	ENSP00000494614.2:p.Thr525Ser
ENST00000652672.2:c.4883C>G	ENSP00000498906.2:p.Thr1628Ser
ENST00000484087.6:c.1586C>G	ENSP00000419481.2:p.Thr529Ser
ENST00000357654.9:c.5024C>G MANE Select	ENSP00000350283.3:p.Thr1675Ser
ENST00000471181.7:c.5087C>G	ENSP00000418960.2:p.Thr1696Ser
ENST00000644379.1:c.1411C>G
ENST00000352993.7:c.1598C>G	ENSP00000312236.5:p.Thr533Ser
ENST00000357654.7:c.5024C>G	ENSP00000350283.3:p.Thr1675Ser
ENST00000461221.5:c.*4807C>G	ENSP00000418548.1:n.*4807C>G
ENST00000468300.5:c.1712C>G	ENSP00000417148.1:p.Thr571Ser
ENST00000471181.6:c.5087C>G	ENSP00000418960.2:p.Thr1696Ser
ENST00000472490.1:n.177C>G
ENST00000478531.5:c.1712C>G	ENSP00000420412.1:p.Thr571Ser
ENST00000484087.5:c.1337C>G	ENSP00000419481.1:p.Thr446Ser
ENST00000491747.6:c.1712C>G	ENSP00000420705.2:p.Thr571Ser
ENST00000493795.5:c.4883C>G	ENSP00000418775.1:p.Thr1628Ser
ENST00000493919.5:c.1574C>G	ENSP00000418819.1:p.Thr525Ser
ENST00000586385.5:c.5-3707C>G	ENSP00000465818.1:n.5-3707C>G
ENST00000591534.5:c.497C>G	ENSP00000467329.1:p.Thr166Ser
ENST00000591849.5:c.-98-17468C>G	ENSP00000465347.1:n.-98-17468C>G
NM_007294.3:c.5024C>G , LRG_292t1:c.5024C>G	NP_009225.1:p.Thr1675Ser
NM_007297.3:c.4883C>G	NP_009228.2:p.Thr1628Ser
NM_007298.3:c.1712C>G	NP_009229.2:p.Thr571Ser
NM_007299.3:c.1712C>G	NP_009230.2:p.Thr571Ser
NM_007300.3:c.5087C>G	NP_009231.2:p.Thr1696Ser
NR_027676.1:n.5160C>G
NM_007294.4:c.5024C>G MANE Select	NP_009225.1:p.Thr1675Ser
NM_007297.4:c.4883C>G	NP_009228.2:p.Thr1628Ser
NM_007299.4:c.1712C>G	NP_009230.2:p.Thr571Ser
NM_007300.4:c.5087C>G	NP_009231.2:p.Thr1696Ser
NR_027676.2:n.5201C>G