Canonical Allele Identifier: CA002857

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55203
• ClinVar RCV Id: RCV000048563 ; RCV000077573 ; RCV000167166 ; RCV000780980 ; RCV002477173
• dbSNP Id: rs80356870
• gnomAD v4: 17-43076518-G-A
• MyVariant Identifiers: chr17:g.41228535G>A (hg19) ; chr17:g.43076518G>A (hg38)
• PubMed: PMID:10923033 ; PMID:15235020

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076518G>A , CM000679.2:g.43076518G>A	GRCh38
NC_000017.10:g.41228535G>A , CM000679.1:g.41228535G>A	GRCh37
NC_000017.9:g.38482061G>A	NCBI36
NG_005905.2:g.141466C>T , LRG_292:g.141466C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4451C>T	ENSP00000417241.2:p.Thr1484Ile
ENST00000470026.6:c.4454C>T	ENSP00000419274.2:p.Thr1485Ile
ENST00000473961.6:c.4328C>T	ENSP00000420201.2:p.Thr1443Ile
ENST00000476777.6:c.4448C>T	ENSP00000417554.2:p.Thr1483Ile
ENST00000477152.6:c.4376C>T	ENSP00000419988.2:p.Thr1459Ile
ENST00000478531.6:c.1142C>T	ENSP00000420412.2:p.Thr381Ile
ENST00000489037.2:c.4376C>T	ENSP00000420781.2:p.Thr1459Ile
ENST00000493919.6:c.1004C>T	ENSP00000418819.2:p.Thr335Ile
ENST00000494123.6:c.4454C>T	ENSP00000419103.2:p.Thr1485Ile
ENST00000497488.2:c.3566C>T	ENSP00000418986.2:p.Thr1189Ile
ENST00000618469.2:c.4454C>T	ENSP00000478114.2:p.Thr1485Ile
ENST00000634433.2:c.4331C>T	ENSP00000489431.2:p.Thr1444Ile
ENST00000644379.2:c.4520C>T	ENSP00000496570.2:p.Thr1507Ile
ENST00000644555.2:c.1004C>T	ENSP00000494614.2:p.Thr335Ile
ENST00000652672.2:c.4313C>T	ENSP00000498906.2:p.Thr1438Ile
ENST00000484087.6:c.1016C>T	ENSP00000419481.2:p.Thr339Ile
ENST00000700182.1:c.1061C>T	ENSP00000514849.1:p.Thr354Ile
ENST00000357654.9:c.4454C>T MANE Select	ENSP00000350283.3:p.Thr1485Ile
ENST00000471181.7:c.4517C>T	ENSP00000418960.2:p.Thr1506Ile
ENST00000644379.1:c.841C>T
ENST00000352993.7:c.1028C>T	ENSP00000312236.5:p.Thr343Ile
ENST00000357654.7:c.4454C>T	ENSP00000350283.3:p.Thr1485Ile
ENST00000461221.5:c.*4237C>T	ENSP00000418548.1:n.*4237C>T
ENST00000468300.5:c.1142C>T	ENSP00000417148.1:p.Thr381Ile
ENST00000471181.6:c.4517C>T	ENSP00000418960.2:p.Thr1506Ile
ENST00000478531.5:c.1142C>T	ENSP00000420412.1:p.Thr381Ile
ENST00000484087.5:c.767C>T	ENSP00000419481.1:p.Thr256Ile
ENST00000487825.5:c.770C>T	ENSP00000418212.1:p.Thr257Ile
ENST00000491747.6:c.1142C>T	ENSP00000420705.2:p.Thr381Ile
ENST00000493795.5:c.4313C>T	ENSP00000418775.1:p.Thr1438Ile
ENST00000493919.5:c.1004C>T	ENSP00000418819.1:p.Thr335Ile
ENST00000586385.5:c.5-12567C>T	ENSP00000465818.1:n.5-12567C>T
ENST00000591534.5:c.-43-1997C>T	ENSP00000467329.1:n.-43-1997C>T
ENST00000591849.5:c.-98-26328C>T	ENSP00000465347.1:n.-98-26328C>T
ENST00000621897.1:n.345C>T
NM_007294.3:c.4454C>T , LRG_292t1:c.4454C>T	NP_009225.1:p.Thr1485Ile
NM_007297.3:c.4313C>T	NP_009228.2:p.Thr1438Ile
NM_007298.3:c.1142C>T	NP_009229.2:p.Thr381Ile
NM_007299.3:c.1142C>T	NP_009230.2:p.Thr381Ile
NM_007300.3:c.4517C>T	NP_009231.2:p.Thr1506Ile
NR_027676.1:n.4590C>T
NM_007294.4:c.4454C>T MANE Select	NP_009225.1:p.Thr1485Ile
NM_007297.4:c.4313C>T	NP_009228.2:p.Thr1438Ile
NM_007299.4:c.1142C>T	NP_009230.2:p.Thr381Ile
NM_007300.4:c.4517C>T	NP_009231.2:p.Thr1506Ile
NR_027676.2:n.4631C>T