Canonical Allele Identifier: CA10591378

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868591
• ClinVar RCV Id: RCV001077518
• dbSNP Id: rs397509219
• MyVariant Identifiers: chr17:g.41219628T>G (hg19) ; chr17:g.43067611T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067611T>G , CM000679.2:g.43067611T>G	GRCh38
NC_000017.10:g.41219628T>G , CM000679.1:g.41219628T>G	GRCh37
NC_000017.9:g.38473154T>G	NCBI36
NG_005905.2:g.150373A>C , LRG_292:g.150373A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5068A>C	ENSP00000417241.2:p.Thr1690Pro
ENST00000470026.6:c.5071A>C	ENSP00000419274.2:p.Thr1691Pro
ENST00000473961.6:c.4945A>C	ENSP00000420201.2:p.Thr1649Pro
ENST00000476777.6:c.5065A>C	ENSP00000417554.2:p.Thr1689Pro
ENST00000477152.6:c.4993A>C	ENSP00000419988.2:p.Thr1665Pro
ENST00000478531.6:c.1759A>C	ENSP00000420412.2:p.Thr587Pro
ENST00000489037.2:c.4993A>C	ENSP00000420781.2:p.Thr1665Pro
ENST00000493919.6:c.1621A>C	ENSP00000418819.2:p.Thr541Pro
ENST00000494123.6:c.5071A>C	ENSP00000419103.2:p.Thr1691Pro
ENST00000497488.2:c.4183A>C	ENSP00000418986.2:p.Thr1395Pro
ENST00000618469.2:c.5071A>C	ENSP00000478114.2:p.Thr1691Pro
ENST00000634433.2:c.4948A>C	ENSP00000489431.2:p.Thr1650Pro
ENST00000644379.2:c.5137A>C	ENSP00000496570.2:p.Thr1713Pro
ENST00000644555.2:c.1621A>C	ENSP00000494614.2:p.Thr541Pro
ENST00000652672.2:c.4930A>C	ENSP00000498906.2:p.Thr1644Pro
ENST00000484087.6:c.1633A>C	ENSP00000419481.2:p.Thr545Pro
ENST00000357654.9:c.5071A>C MANE Select	ENSP00000350283.3:p.Thr1691Pro
ENST00000471181.7:c.5134A>C	ENSP00000418960.2:p.Thr1712Pro
ENST00000644379.1:c.1458A>C
ENST00000352993.7:c.1645A>C	ENSP00000312236.5:p.Thr549Pro
ENST00000357654.7:c.5071A>C	ENSP00000350283.3:p.Thr1691Pro
ENST00000461221.5:c.*4854A>C	ENSP00000418548.1:n.*4854A>C
ENST00000468300.5:c.1759A>C	ENSP00000417148.1:p.Thr587Pro
ENST00000471181.6:c.5134A>C	ENSP00000418960.2:p.Thr1712Pro
ENST00000472490.1:n.224A>C
ENST00000478531.5:c.1759A>C	ENSP00000420412.1:p.Thr587Pro
ENST00000484087.5:c.1384A>C	ENSP00000419481.1:p.Thr462Pro
ENST00000491747.6:c.1759A>C	ENSP00000420705.2:p.Thr587Pro
ENST00000493795.5:c.4930A>C	ENSP00000418775.1:p.Thr1644Pro
ENST00000493919.5:c.1621A>C	ENSP00000418819.1:p.Thr541Pro
ENST00000586385.5:c.5-3660A>C	ENSP00000465818.1:n.5-3660A>C
ENST00000591534.5:c.544A>C	ENSP00000467329.1:p.Thr182Pro
ENST00000591849.5:c.-98-17421A>C	ENSP00000465347.1:n.-98-17421A>C
NM_007294.3:c.5071A>C , LRG_292t1:c.5071A>C	NP_009225.1:p.Thr1691Pro
NM_007297.3:c.4930A>C	NP_009228.2:p.Thr1644Pro
NM_007298.3:c.1759A>C	NP_009229.2:p.Thr587Pro
NM_007299.3:c.1759A>C	NP_009230.2:p.Thr587Pro
NM_007300.3:c.5134A>C	NP_009231.2:p.Thr1712Pro
NR_027676.1:n.5207A>C
NM_007294.4:c.5071A>C MANE Select	NP_009225.1:p.Thr1691Pro
NM_007297.4:c.4930A>C	NP_009228.2:p.Thr1644Pro
NM_007299.4:c.1759A>C	NP_009230.2:p.Thr587Pro
NM_007300.4:c.5134A>C	NP_009231.2:p.Thr1712Pro
NR_027676.2:n.5248A>C