Canonical Allele Identifier: CA003063

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55307
• ClinVar RCV Id: RCV000112416 ; RCV000573448 ; RCV001300632 ; RCV001582549
• dbSNP Id: rs80357158
• MyVariant Identifiers: chr17:g.41223047C>A (hg19) ; chr17:g.43071030C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071030C>A , CM000679.2:g.43071030C>A	GRCh38
NC_000017.10:g.41223047C>A , CM000679.1:g.41223047C>A	GRCh37
NC_000017.9:g.38476573C>A	NCBI36
NG_005905.2:g.146954G>T , LRG_292:g.146954G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4881G>T	ENSP00000417241.2:p.Met1627Ile
ENST00000470026.6:c.4884G>T	ENSP00000419274.2:p.Met1628Ile
ENST00000473961.6:c.4758G>T	ENSP00000420201.2:p.Met1586Ile
ENST00000476777.6:c.4878G>T	ENSP00000417554.2:p.Met1626Ile
ENST00000477152.6:c.4806G>T	ENSP00000419988.2:p.Met1602Ile
ENST00000478531.6:c.1572G>T	ENSP00000420412.2:p.Met524Ile
ENST00000489037.2:c.4806G>T	ENSP00000420781.2:p.Met1602Ile
ENST00000493919.6:c.1434G>T	ENSP00000418819.2:p.Met478Ile
ENST00000494123.6:c.4884G>T	ENSP00000419103.2:p.Met1628Ile
ENST00000497488.2:c.3996G>T	ENSP00000418986.2:p.Met1332Ile
ENST00000618469.2:c.4884G>T	ENSP00000478114.2:p.Met1628Ile
ENST00000634433.2:c.4761G>T	ENSP00000489431.2:p.Met1587Ile
ENST00000644379.2:c.4950G>T	ENSP00000496570.2:p.Met1650Ile
ENST00000644555.2:c.1434G>T	ENSP00000494614.2:p.Met478Ile
ENST00000652672.2:c.4743G>T	ENSP00000498906.2:p.Met1581Ile
ENST00000484087.6:c.1446G>T	ENSP00000419481.2:p.Met482Ile
ENST00000700182.1:c.1491G>T	ENSP00000514849.1:p.Met497Ile
ENST00000357654.9:c.4884G>T MANE Select	ENSP00000350283.3:p.Met1628Ile
ENST00000471181.7:c.4947G>T	ENSP00000418960.2:p.Met1649Ile
ENST00000644379.1:c.1271G>T
ENST00000352993.7:c.1458G>T	ENSP00000312236.5:p.Met486Ile
ENST00000357654.7:c.4884G>T	ENSP00000350283.3:p.Met1628Ile
ENST00000461221.5:c.*4667G>T	ENSP00000418548.1:n.*4667G>T
ENST00000468300.5:c.1572G>T	ENSP00000417148.1:p.Met524Ile
ENST00000471181.6:c.4947G>T	ENSP00000418960.2:p.Met1649Ile
ENST00000472490.1:n.37G>T
ENST00000478531.5:c.1572G>T	ENSP00000420412.1:p.Met524Ile
ENST00000484087.5:c.1197G>T	ENSP00000419481.1:p.Met399Ile
ENST00000491747.6:c.1572G>T	ENSP00000420705.2:p.Met524Ile
ENST00000493795.5:c.4743G>T	ENSP00000418775.1:p.Met1581Ile
ENST00000493919.5:c.1434G>T	ENSP00000418819.1:p.Met478Ile
ENST00000586385.5:c.5-7079G>T	ENSP00000465818.1:n.5-7079G>T
ENST00000591534.5:c.357G>T	ENSP00000467329.1:p.Met119Ile
ENST00000591849.5:c.-98-20840G>T	ENSP00000465347.1:n.-98-20840G>T
NM_007294.3:c.4884G>T , LRG_292t1:c.4884G>T	NP_009225.1:p.Met1628Ile
NM_007297.3:c.4743G>T	NP_009228.2:p.Met1581Ile
NM_007298.3:c.1572G>T	NP_009229.2:p.Met524Ile
NM_007299.3:c.1572G>T	NP_009230.2:p.Met524Ile
NM_007300.3:c.4947G>T	NP_009231.2:p.Met1649Ile
NR_027676.1:n.5020G>T
NM_007294.4:c.4884G>T MANE Select	NP_009225.1:p.Met1628Ile
NM_007297.4:c.4743G>T	NP_009228.2:p.Met1581Ile
NM_007299.4:c.1572G>T	NP_009230.2:p.Met524Ile
NM_007300.4:c.4947G>T	NP_009231.2:p.Met1649Ile
NR_027676.2:n.5061G>T