Canonical Allele Identifier: CA002281

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54922
• ClinVar RCV Id: RCV000112122 ; RCV000223601 ; RCV001367738 ; RCV002265584
• dbSNP Id: rs80357290
• gnomAD v4: 17-43091950-G-A
• MyVariant Identifiers: chr17:g.41243967G>A (hg19) ; chr17:g.43091950G>A (hg38)
• PubMed: PMID:15385441 ; PMID:16267036 ; PMID:20051372 ; PMID:23704879

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091950G>A , CM000679.2:g.43091950G>A	GRCh38
NC_000017.10:g.41243967G>A , CM000679.1:g.41243967G>A	GRCh37
NC_000017.9:g.38497493G>A	NCBI36
NG_005905.2:g.126034C>T , LRG_292:g.126034C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3645C>T
ENST00000461574.2:c.3581C>T	ENSP00000417241.2:p.Thr1194Ile
ENST00000470026.6:c.3581C>T	ENSP00000419274.2:p.Thr1194Ile
ENST00000473961.6:c.3455C>T	ENSP00000420201.2:p.Thr1152Ile
ENST00000476777.6:c.3578C>T	ENSP00000417554.2:p.Thr1193Ile
ENST00000477152.6:c.3503C>T	ENSP00000419988.2:p.Thr1168Ile
ENST00000478531.6:c.785-918C>T	ENSP00000420412.2:n.785-918C>T
ENST00000489037.2:c.3503C>T	ENSP00000420781.2:p.Thr1168Ile
ENST00000493919.6:c.647-918C>T	ENSP00000418819.2:n.647-918C>T
ENST00000494123.6:c.3581C>T	ENSP00000419103.2:p.Thr1194Ile
ENST00000497488.2:c.2693C>T	ENSP00000418986.2:p.Thr898Ile
ENST00000618469.2:c.3581C>T	ENSP00000478114.2:p.Thr1194Ile
ENST00000634433.2:c.3458C>T	ENSP00000489431.2:p.Thr1153Ile
ENST00000644379.2:c.3581C>T	ENSP00000496570.2:p.Thr1194Ile
ENST00000644555.2:c.647-918C>T	ENSP00000494614.2:n.647-918C>T
ENST00000652672.2:c.3440C>T	ENSP00000498906.2:p.Thr1147Ile
ENST00000484087.6:c.665-918C>T	ENSP00000419481.2:n.665-918C>T
ENST00000700182.1:c.707-918C>T	ENSP00000514849.1:n.707-918C>T
ENST00000357654.9:c.3581C>T MANE Select	ENSP00000350283.3:p.Thr1194Ile
ENST00000471181.7:c.3581C>T	ENSP00000418960.2:p.Thr1194Ile
ENST00000352993.7:c.671-918C>T	ENSP00000312236.5:n.671-918C>T
ENST00000354071.7:c.3581C>T	ENSP00000326002.7:p.Thr1194Ile
ENST00000357654.7:c.3581C>T	ENSP00000350283.3:p.Thr1194Ile
ENST00000461221.5:c.*3364C>T	ENSP00000418548.1:n.*3364C>T
ENST00000468300.5:c.788-918C>T	ENSP00000417148.1:n.788-918C>T
ENST00000471181.6:c.3581C>T	ENSP00000418960.2:p.Thr1194Ile
ENST00000478531.5:c.785-918C>T	ENSP00000420412.1:n.785-918C>T
ENST00000484087.5:c.410-918C>T	ENSP00000419481.1:n.410-918C>T
ENST00000487825.5:c.413-918C>T	ENSP00000418212.1:n.413-918C>T
ENST00000491747.6:c.788-918C>T	ENSP00000420705.2:n.788-918C>T
ENST00000493795.5:c.3440C>T	ENSP00000418775.1:p.Thr1147Ile
ENST00000493919.5:c.647-918C>T	ENSP00000418819.1:n.647-918C>T
ENST00000586385.5:c.5-27999C>T	ENSP00000465818.1:n.5-27999C>T
ENST00000591534.5:c.-43-17429C>T	ENSP00000467329.1:n.-43-17429C>T
ENST00000591849.5:c.-99+33321C>T	ENSP00000465347.1:n.-99+33321C>T
NM_007294.3:c.3581C>T , LRG_292t1:c.3581C>T	NP_009225.1:p.Thr1194Ile
NM_007297.3:c.3440C>T	NP_009228.2:p.Thr1147Ile
NM_007298.3:c.788-918C>T	NP_009229.2:n.788-918C>T
NM_007299.3:c.788-918C>T	NP_009230.2:n.788-918C>T
NM_007300.3:c.3581C>T	NP_009231.2:p.Thr1194Ile
NR_027676.1:n.3717C>T
NM_007294.4:c.3581C>T MANE Select	NP_009225.1:p.Thr1194Ile
NM_007297.4:c.3440C>T	NP_009228.2:p.Thr1147Ile
NM_007299.4:c.788-918C>T	NP_009230.2:n.788-918C>T
NM_007300.4:c.3581C>T	NP_009231.2:p.Thr1194Ile
NR_027676.2:n.3758C>T