Canonical Allele Identifier: CA350692

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 219819
• ClinVar RCV Id: RCV000206692
• dbSNP Id: rs864622265
• COSMIC: COSM1189484
• MyVariant Identifiers: chr17:g.41226382C>A (hg19) ; chr17:g.43074365C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074365C>A , CM000679.2:g.43074365C>A	GRCh38
NC_000017.10:g.41226382C>A , CM000679.1:g.41226382C>A	GRCh37
NC_000017.9:g.38479908C>A	NCBI36
NG_005905.2:g.143619G>T , LRG_292:g.143619G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4638G>T	ENSP00000417241.2:p.Leu1546Phe
ENST00000470026.6:c.4641G>T	ENSP00000419274.2:p.Leu1547Phe
ENST00000473961.6:c.4515G>T	ENSP00000420201.2:p.Leu1505Phe
ENST00000476777.6:c.4635G>T	ENSP00000417554.2:p.Leu1545Phe
ENST00000477152.6:c.4563G>T	ENSP00000419988.2:p.Leu1521Phe
ENST00000478531.6:c.1329G>T	ENSP00000420412.2:p.Leu443Phe
ENST00000489037.2:c.4563G>T	ENSP00000420781.2:p.Leu1521Phe
ENST00000493919.6:c.1191G>T	ENSP00000418819.2:p.Leu397Phe
ENST00000494123.6:c.4641G>T	ENSP00000419103.2:p.Leu1547Phe
ENST00000497488.2:c.3753G>T	ENSP00000418986.2:p.Leu1251Phe
ENST00000618469.2:c.4641G>T	ENSP00000478114.2:p.Leu1547Phe
ENST00000634433.2:c.4518G>T	ENSP00000489431.2:p.Leu1506Phe
ENST00000644379.2:c.4707G>T	ENSP00000496570.2:p.Leu1569Phe
ENST00000644555.2:c.1191G>T	ENSP00000494614.2:p.Leu397Phe
ENST00000652672.2:c.4500G>T	ENSP00000498906.2:p.Leu1500Phe
ENST00000484087.6:c.1203G>T	ENSP00000419481.2:p.Leu401Phe
ENST00000700182.1:c.1248G>T	ENSP00000514849.1:p.Leu416Phe
ENST00000357654.9:c.4641G>T MANE Select	ENSP00000350283.3:p.Leu1547Phe
ENST00000471181.7:c.4704G>T	ENSP00000418960.2:p.Leu1568Phe
ENST00000644379.1:c.1028G>T
ENST00000352993.7:c.1215G>T	ENSP00000312236.5:p.Leu405Phe
ENST00000357654.7:c.4641G>T	ENSP00000350283.3:p.Leu1547Phe
ENST00000461221.5:c.*4424G>T	ENSP00000418548.1:n.*4424G>T
ENST00000468300.5:c.1329G>T	ENSP00000417148.1:p.Leu443Phe
ENST00000471181.6:c.4704G>T	ENSP00000418960.2:p.Leu1568Phe
ENST00000478531.5:c.1329G>T	ENSP00000420412.1:p.Leu443Phe
ENST00000484087.5:c.954G>T	ENSP00000419481.1:p.Leu318Phe
ENST00000491747.6:c.1329G>T	ENSP00000420705.2:p.Leu443Phe
ENST00000493795.5:c.4500G>T	ENSP00000418775.1:p.Leu1500Phe
ENST00000493919.5:c.1191G>T	ENSP00000418819.1:p.Leu397Phe
ENST00000586385.5:c.5-10414G>T	ENSP00000465818.1:n.5-10414G>T
ENST00000591534.5:c.114G>T	ENSP00000467329.1:p.Leu38Phe
ENST00000591849.5:c.-98-24175G>T	ENSP00000465347.1:n.-98-24175G>T
NM_007294.3:c.4641G>T , LRG_292t1:c.4641G>T	NP_009225.1:p.Leu1547Phe
NM_007297.3:c.4500G>T	NP_009228.2:p.Leu1500Phe
NM_007298.3:c.1329G>T	NP_009229.2:p.Leu443Phe
NM_007299.3:c.1329G>T	NP_009230.2:p.Leu443Phe
NM_007300.3:c.4704G>T	NP_009231.2:p.Leu1568Phe
NR_027676.1:n.4777G>T
NM_007294.4:c.4641G>T MANE Select	NP_009225.1:p.Leu1547Phe
NM_007297.4:c.4500G>T	NP_009228.2:p.Leu1500Phe
NM_007299.4:c.1329G>T	NP_009230.2:p.Leu443Phe
NM_007300.4:c.4704G>T	NP_009231.2:p.Leu1568Phe
NR_027676.2:n.4818G>T