Canonical Allele Identifier: CA10590666

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868055
• ClinVar RCV Id: RCV001076874 ; RCV001862643 ; RCV002348518
• dbSNP Id: rs2051072173
• gnomAD v4: 17-43049122-G-A
• MyVariant Identifiers: chr17:g.41201139G>A (hg19) ; chr17:g.43049122G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049122G>A , CM000679.2:g.43049122G>A	GRCh38
NC_000017.10:g.41201139G>A , CM000679.1:g.41201139G>A	GRCh37
NC_000017.9:g.38454665G>A	NCBI36
NG_005905.2:g.168862C>T , LRG_292:g.168862C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5402C>T	ENSP00000417241.2:p.Thr1801Ile
ENST00000470026.6:c.5405C>T	ENSP00000419274.2:p.Thr1802Ile
ENST00000473961.6:c.5279C>T	ENSP00000420201.2:p.Thr1760Ile
ENST00000476777.6:c.5399C>T	ENSP00000417554.2:p.Thr1800Ile
ENST00000477152.6:c.5327C>T	ENSP00000419988.2:p.Thr1776Ile
ENST00000478531.6:c.2093C>T	ENSP00000420412.2:p.Thr698Ile
ENST00000489037.2:c.5327C>T	ENSP00000420781.2:p.Thr1776Ile
ENST00000493919.6:c.1955C>T	ENSP00000418819.2:p.Thr652Ile
ENST00000494123.6:c.5405C>T	ENSP00000419103.2:p.Thr1802Ile
ENST00000497488.2:c.4517C>T	ENSP00000418986.2:p.Thr1506Ile
ENST00000618469.2:c.5405C>T	ENSP00000478114.2:p.Thr1802Ile
ENST00000634433.2:c.5282C>T	ENSP00000489431.2:p.Thr1761Ile
ENST00000644379.2:c.5471C>T	ENSP00000496570.2:p.Thr1824Ile
ENST00000644555.2:c.1955C>T	ENSP00000494614.2:p.Thr652Ile
ENST00000652672.2:c.5264C>T	ENSP00000498906.2:p.Thr1755Ile
ENST00000484087.6:c.1967C>T	ENSP00000419481.2:p.Thr656Ile
ENST00000700081.1:n.1288C>T
ENST00000357654.9:c.5405C>T MANE Select	ENSP00000350283.3:p.Thr1802Ile
ENST00000471181.7:c.5468C>T	ENSP00000418960.2:p.Thr1823Ile
ENST00000644379.1:c.1792C>T
ENST00000352993.7:c.1979C>T	ENSP00000312236.5:p.Thr660Ile
ENST00000357654.7:c.5405C>T	ENSP00000350283.3:p.Thr1802Ile
ENST00000461221.5:c.*5188C>T	ENSP00000418548.1:n.*5188C>T
ENST00000468300.5:c.2021-1419C>T	ENSP00000417148.1:n.2021-1419C>T
ENST00000471181.6:c.5468C>T	ENSP00000418960.2:p.Thr1823Ile
ENST00000491747.6:c.2093C>T	ENSP00000420705.2:p.Thr698Ile
ENST00000493795.5:c.5264C>T	ENSP00000418775.1:p.Thr1755Ile
ENST00000586385.5:c.335C>T	ENSP00000465818.1:p.Thr112Ile
ENST00000591534.5:c.878C>T	ENSP00000467329.1:p.Thr293Ile
ENST00000591849.5:c.104C>T	ENSP00000465347.1:p.Thr35Ile
NM_007294.3:c.5405C>T , LRG_292t1:c.5405C>T	NP_009225.1:p.Thr1802Ile
NM_007297.3:c.5264C>T	NP_009228.2:p.Thr1755Ile
NM_007298.3:c.2093C>T	NP_009229.2:p.Thr698Ile
NM_007299.3:c.2021-1419C>T	NP_009230.2:n.2021-1419C>T
NM_007300.3:c.5468C>T	NP_009231.2:p.Thr1823Ile
NR_027676.1:n.5541C>T
NM_007294.4:c.5405C>T MANE Select	NP_009225.1:p.Thr1802Ile
NM_007297.4:c.5264C>T	NP_009228.2:p.Thr1755Ile
NM_007299.4:c.2021-1419C>T	NP_009230.2:n.2021-1419C>T
NM_007300.4:c.5468C>T	NP_009231.2:p.Thr1823Ile
NR_027676.2:n.5582C>T