Canonical Allele Identifier: CA10592205

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 433716
• ClinVar RCV Id: RCV000504104 ; RCV000532651 ; RCV000735520 ; RCV000758836 ; RCV000765359 ; RCV000776618
• dbSNP Id: rs1265352633
• gnomAD v2: 17-41226369-A-G
• gnomAD v4: 17-43074352-A-G
• MyVariant Identifiers: chr17:g.41226369A>G (hg19) ; chr17:g.43074352A>G (hg38)
• PubMed: PMID:22713736

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074352A>G , CM000679.2:g.43074352A>G	GRCh38
NC_000017.10:g.41226369A>G , CM000679.1:g.41226369A>G	GRCh37
NC_000017.9:g.38479895A>G	NCBI36
NG_005905.2:g.143632T>C , LRG_292:g.143632T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4651T>C	ENSP00000417241.2:p.Tyr1551His
ENST00000470026.6:c.4654T>C	ENSP00000419274.2:p.Tyr1552His
ENST00000473961.6:c.4528T>C	ENSP00000420201.2:p.Tyr1510His
ENST00000476777.6:c.4648T>C	ENSP00000417554.2:p.Tyr1550His
ENST00000477152.6:c.4576T>C	ENSP00000419988.2:p.Tyr1526His
ENST00000478531.6:c.1342T>C	ENSP00000420412.2:p.Tyr448His
ENST00000489037.2:c.4576T>C	ENSP00000420781.2:p.Tyr1526His
ENST00000493919.6:c.1204T>C	ENSP00000418819.2:p.Tyr402His
ENST00000494123.6:c.4654T>C	ENSP00000419103.2:p.Tyr1552His
ENST00000497488.2:c.3766T>C	ENSP00000418986.2:p.Tyr1256His
ENST00000618469.2:c.4654T>C	ENSP00000478114.2:p.Tyr1552His
ENST00000634433.2:c.4531T>C	ENSP00000489431.2:p.Tyr1511His
ENST00000644379.2:c.4720T>C	ENSP00000496570.2:p.Tyr1574His
ENST00000644555.2:c.1204T>C	ENSP00000494614.2:p.Tyr402His
ENST00000652672.2:c.4513T>C	ENSP00000498906.2:p.Tyr1505His
ENST00000484087.6:c.1216T>C	ENSP00000419481.2:p.Tyr406His
ENST00000700182.1:c.1261T>C	ENSP00000514849.1:p.Tyr421His
ENST00000357654.9:c.4654T>C MANE Select	ENSP00000350283.3:p.Tyr1552His
ENST00000471181.7:c.4717T>C	ENSP00000418960.2:p.Tyr1573His
ENST00000644379.1:c.1041T>C
ENST00000352993.7:c.1228T>C	ENSP00000312236.5:p.Tyr410His
ENST00000357654.7:c.4654T>C	ENSP00000350283.3:p.Tyr1552His
ENST00000461221.5:c.*4437T>C	ENSP00000418548.1:n.*4437T>C
ENST00000468300.5:c.1342T>C	ENSP00000417148.1:p.Tyr448His
ENST00000471181.6:c.4717T>C	ENSP00000418960.2:p.Tyr1573His
ENST00000478531.5:c.1342T>C	ENSP00000420412.1:p.Tyr448His
ENST00000484087.5:c.967T>C	ENSP00000419481.1:p.Tyr323His
ENST00000491747.6:c.1342T>C	ENSP00000420705.2:p.Tyr448His
ENST00000493795.5:c.4513T>C	ENSP00000418775.1:p.Tyr1505His
ENST00000493919.5:c.1204T>C	ENSP00000418819.1:p.Tyr402His
ENST00000586385.5:c.5-10401T>C	ENSP00000465818.1:n.5-10401T>C
ENST00000591534.5:c.127T>C	ENSP00000467329.1:p.Tyr43His
ENST00000591849.5:c.-98-24162T>C	ENSP00000465347.1:n.-98-24162T>C
NM_007294.3:c.4654T>C , LRG_292t1:c.4654T>C	NP_009225.1:p.Tyr1552His
NM_007297.3:c.4513T>C	NP_009228.2:p.Tyr1505His
NM_007298.3:c.1342T>C	NP_009229.2:p.Tyr448His
NM_007299.3:c.1342T>C	NP_009230.2:p.Tyr448His
NM_007300.3:c.4717T>C	NP_009231.2:p.Tyr1573His
NR_027676.1:n.4790T>C
NM_007294.4:c.4654T>C MANE Select	NP_009225.1:p.Tyr1552His
NM_007297.4:c.4513T>C	NP_009228.2:p.Tyr1505His
NM_007299.4:c.1342T>C	NP_009230.2:p.Tyr448His
NM_007300.4:c.4717T>C	NP_009231.2:p.Tyr1573His
NR_027676.2:n.4831T>C