Canonical Allele Identifier: CA003089

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55321
• ClinVar RCV Id: RCV000048698 ; RCV000112427 ; RCV000167324 ; RCV000235133 ; RCV000656790
• dbSNP Id: rs80357373
• gnomAD v4: 17-43070979-C-G
• MyVariant Identifiers: chr17:g.41222996C>G (hg19) ; chr17:g.43070979C>G (hg38)
• PubMed: PMID:10923033 ; PMID:16284991 ; PMID:19491284 ; PMID:24249303 ; PMID:25136594

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070979C>G , CM000679.2:g.43070979C>G	GRCh38
NC_000017.10:g.41222996C>G , CM000679.1:g.41222996C>G	GRCh37
NC_000017.9:g.38476522C>G	NCBI36
NG_005905.2:g.147005G>C , LRG_292:g.147005G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4932G>C	ENSP00000417241.2:p.Arg1644Ser
ENST00000470026.6:c.4935G>C	ENSP00000419274.2:p.Arg1645Ser
ENST00000473961.6:c.4809G>C	ENSP00000420201.2:p.Arg1603Ser
ENST00000476777.6:c.4929G>C	ENSP00000417554.2:p.Arg1643Ser
ENST00000477152.6:c.4857G>C	ENSP00000419988.2:p.Arg1619Ser
ENST00000478531.6:c.1623G>C	ENSP00000420412.2:p.Arg541Ser
ENST00000489037.2:c.4857G>C	ENSP00000420781.2:p.Arg1619Ser
ENST00000493919.6:c.1485G>C	ENSP00000418819.2:p.Arg495Ser
ENST00000494123.6:c.4935G>C	ENSP00000419103.2:p.Arg1645Ser
ENST00000497488.2:c.4047G>C	ENSP00000418986.2:p.Arg1349Ser
ENST00000618469.2:c.4935G>C	ENSP00000478114.2:p.Arg1645Ser
ENST00000634433.2:c.4812G>C	ENSP00000489431.2:p.Arg1604Ser
ENST00000644379.2:c.5001G>C	ENSP00000496570.2:p.Arg1667Ser
ENST00000644555.2:c.1485G>C	ENSP00000494614.2:p.Arg495Ser
ENST00000652672.2:c.4794G>C	ENSP00000498906.2:p.Arg1598Ser
ENST00000484087.6:c.1497G>C	ENSP00000419481.2:p.Arg499Ser
ENST00000700182.1:c.1542G>C	ENSP00000514849.1:p.Arg514Ser
ENST00000357654.9:c.4935G>C MANE Select	ENSP00000350283.3:p.Arg1645Ser
ENST00000471181.7:c.4998G>C	ENSP00000418960.2:p.Arg1666Ser
ENST00000644379.1:c.1322G>C
ENST00000352993.7:c.1509G>C	ENSP00000312236.5:p.Arg503Ser
ENST00000357654.7:c.4935G>C	ENSP00000350283.3:p.Arg1645Ser
ENST00000461221.5:c.*4718G>C	ENSP00000418548.1:n.*4718G>C
ENST00000468300.5:c.1623G>C	ENSP00000417148.1:p.Arg541Ser
ENST00000471181.6:c.4998G>C	ENSP00000418960.2:p.Arg1666Ser
ENST00000472490.1:n.88G>C
ENST00000478531.5:c.1623G>C	ENSP00000420412.1:p.Arg541Ser
ENST00000484087.5:c.1248G>C	ENSP00000419481.1:p.Arg416Ser
ENST00000491747.6:c.1623G>C	ENSP00000420705.2:p.Arg541Ser
ENST00000493795.5:c.4794G>C	ENSP00000418775.1:p.Arg1598Ser
ENST00000493919.5:c.1485G>C	ENSP00000418819.1:p.Arg495Ser
ENST00000586385.5:c.5-7028G>C	ENSP00000465818.1:n.5-7028G>C
ENST00000591534.5:c.408G>C	ENSP00000467329.1:p.Arg136Ser
ENST00000591849.5:c.-98-20789G>C	ENSP00000465347.1:n.-98-20789G>C
NM_007294.3:c.4935G>C , LRG_292t1:c.4935G>C	NP_009225.1:p.Arg1645Ser
NM_007297.3:c.4794G>C	NP_009228.2:p.Arg1598Ser
NM_007298.3:c.1623G>C	NP_009229.2:p.Arg541Ser
NM_007299.3:c.1623G>C	NP_009230.2:p.Arg541Ser
NM_007300.3:c.4998G>C	NP_009231.2:p.Arg1666Ser
NR_027676.1:n.5071G>C
NM_007294.4:c.4935G>C MANE Select	NP_009225.1:p.Arg1645Ser
NM_007297.4:c.4794G>C	NP_009228.2:p.Arg1598Ser
NM_007299.4:c.1623G>C	NP_009230.2:p.Arg541Ser
NM_007300.4:c.4998G>C	NP_009231.2:p.Arg1666Ser
NR_027676.2:n.5112G>C