Canonical Allele Identifier: CA002973

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55257
• ClinVar RCV Id: RCV000077583 ; RCV000131834 ; RCV000496210 ; RCV000508627
• dbSNP Id: rs80357349
• MyVariant Identifiers: chr17:g.41223253C>A (hg19) ; chr17:g.43071236C>A (hg38)
• PubMed: PMID:22776961

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071236C>A , CM000679.2:g.43071236C>A	GRCh38
NC_000017.10:g.41223253C>A , CM000679.1:g.41223253C>A	GRCh37
NC_000017.9:g.38476779C>A	NCBI36
NG_005905.2:g.146748G>T , LRG_292:g.146748G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4675G>T	ENSP00000417241.2:p.Gly1559Ter
ENST00000470026.6:c.4678G>T	ENSP00000419274.2:p.Gly1560Ter
ENST00000473961.6:c.4552G>T	ENSP00000420201.2:p.Gly1518Ter
ENST00000476777.6:c.4672G>T	ENSP00000417554.2:p.Gly1558Ter
ENST00000477152.6:c.4600G>T	ENSP00000419988.2:p.Gly1534Ter
ENST00000478531.6:c.1366G>T	ENSP00000420412.2:p.Gly456Ter
ENST00000489037.2:c.4600G>T	ENSP00000420781.2:p.Gly1534Ter
ENST00000493919.6:c.1228G>T	ENSP00000418819.2:p.Gly410Ter
ENST00000494123.6:c.4678G>T	ENSP00000419103.2:p.Gly1560Ter
ENST00000497488.2:c.3790G>T	ENSP00000418986.2:p.Gly1264Ter
ENST00000618469.2:c.4678G>T	ENSP00000478114.2:p.Gly1560Ter
ENST00000634433.2:c.4555G>T	ENSP00000489431.2:p.Gly1519Ter
ENST00000644379.2:c.4744G>T	ENSP00000496570.2:p.Gly1582Ter
ENST00000644555.2:c.1228G>T	ENSP00000494614.2:p.Gly410Ter
ENST00000652672.2:c.4537G>T	ENSP00000498906.2:p.Gly1513Ter
ENST00000484087.6:c.1240G>T	ENSP00000419481.2:p.Gly414Ter
ENST00000700182.1:c.1285G>T	ENSP00000514849.1:p.Gly429Ter
ENST00000357654.9:c.4678G>T MANE Select	ENSP00000350283.3:p.Gly1560Ter
ENST00000471181.7:c.4741G>T	ENSP00000418960.2:p.Gly1581Ter
ENST00000644379.1:c.1065G>T
ENST00000352993.7:c.1252G>T	ENSP00000312236.5:p.Gly418Ter
ENST00000357654.7:c.4678G>T	ENSP00000350283.3:p.Gly1560Ter
ENST00000461221.5:c.*4461G>T	ENSP00000418548.1:n.*4461G>T
ENST00000468300.5:c.1366G>T	ENSP00000417148.1:p.Gly456Ter
ENST00000471181.6:c.4741G>T	ENSP00000418960.2:p.Gly1581Ter
ENST00000478531.5:c.1366G>T	ENSP00000420412.1:p.Gly456Ter
ENST00000484087.5:c.991G>T	ENSP00000419481.1:p.Gly331Ter
ENST00000491747.6:c.1366G>T	ENSP00000420705.2:p.Gly456Ter
ENST00000493795.5:c.4537G>T	ENSP00000418775.1:p.Gly1513Ter
ENST00000493919.5:c.1228G>T	ENSP00000418819.1:p.Gly410Ter
ENST00000586385.5:c.5-7285G>T	ENSP00000465818.1:n.5-7285G>T
ENST00000591534.5:c.151G>T	ENSP00000467329.1:p.Gly51Ter
ENST00000591849.5:c.-98-21046G>T	ENSP00000465347.1:n.-98-21046G>T
NM_007294.3:c.4678G>T , LRG_292t1:c.4678G>T	NP_009225.1:p.Gly1560Ter
NM_007297.3:c.4537G>T	NP_009228.2:p.Gly1513Ter
NM_007298.3:c.1366G>T	NP_009229.2:p.Gly456Ter
NM_007299.3:c.1366G>T	NP_009230.2:p.Gly456Ter
NM_007300.3:c.4741G>T	NP_009231.2:p.Gly1581Ter
NR_027676.1:n.4814G>T
NM_007294.4:c.4678G>T MANE Select	NP_009225.1:p.Gly1560Ter
NM_007297.4:c.4537G>T	NP_009228.2:p.Gly1513Ter
NM_007299.4:c.1366G>T	NP_009230.2:p.Gly456Ter
NM_007300.4:c.4741G>T	NP_009231.2:p.Gly1581Ter
NR_027676.2:n.4855G>T