Canonical Allele Identifier: CA003671

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 182171
• ClinVar RCV Id: RCV000160012 ; RCV000218401 ; RCV000467034 ; RCV001078008 ; RCV001582636
• dbSNP Id: rs730881500
• ExAC: 17:41197786 G / A
• gnomAD v2: 17-41197786-G-A
• MyVariant Identifiers: chr17:g.41197786G>A (hg19) ; chr17:g.43045769G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045769G>A , CM000679.2:g.43045769G>A	GRCh38
NC_000017.10:g.41197786G>A , CM000679.1:g.41197786G>A	GRCh37
NC_000017.9:g.38451312G>A	NCBI36
NG_005905.2:g.172215C>T , LRG_292:g.172215C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5498C>T	ENSP00000417241.2:p.Thr1833Ile
ENST00000470026.6:c.5501C>T	ENSP00000419274.2:p.Thr1834Ile
ENST00000473961.6:c.5375C>T	ENSP00000420201.2:p.Thr1792Ile
ENST00000476777.6:c.5495C>T	ENSP00000417554.2:p.Thr1832Ile
ENST00000477152.6:c.5423C>T	ENSP00000419988.2:p.Thr1808Ile
ENST00000478531.6:c.2189C>T	ENSP00000420412.2:p.Thr730Ile
ENST00000489037.2:c.5423C>T	ENSP00000420781.2:p.Thr1808Ile
ENST00000493919.6:c.2051C>T	ENSP00000418819.2:p.Thr684Ile
ENST00000494123.6:c.5501C>T	ENSP00000419103.2:p.Thr1834Ile
ENST00000497488.2:c.4613C>T	ENSP00000418986.2:p.Thr1538Ile
ENST00000618469.2:c.5501C>T	ENSP00000478114.2:p.Thr1834Ile
ENST00000634433.2:c.5378C>T	ENSP00000489431.2:p.Thr1793Ile
ENST00000644379.2:c.5567C>T	ENSP00000496570.2:p.Thr1856Ile
ENST00000644555.2:c.2051C>T	ENSP00000494614.2:p.Thr684Ile
ENST00000652672.2:c.5360C>T	ENSP00000498906.2:p.Thr1787Ile
ENST00000484087.6:c.2063C>T	ENSP00000419481.2:p.Thr688Ile
ENST00000700081.1:n.1384C>T
ENST00000700082.1:n.865C>T
ENST00000357654.9:c.5501C>T MANE Select	ENSP00000350283.3:p.Thr1834Ile
ENST00000471181.7:c.5564C>T	ENSP00000418960.2:p.Thr1855Ile
ENST00000644379.1:c.1888C>T
ENST00000352993.7:c.2075C>T	ENSP00000312236.5:p.Thr692Ile
ENST00000357654.7:c.5501C>T	ENSP00000350283.3:p.Thr1834Ile
ENST00000461221.5:c.*5284C>T	ENSP00000418548.1:n.*5284C>T
ENST00000468300.5:c.*15C>T	ENSP00000417148.1:n.*15C>T
ENST00000471181.6:c.5564C>T	ENSP00000418960.2:p.Thr1855Ile
ENST00000491747.6:c.2189C>T	ENSP00000420705.2:p.Thr730Ile
ENST00000493795.5:c.5360C>T	ENSP00000418775.1:p.Thr1787Ile
ENST00000586385.5:c.431C>T	ENSP00000465818.1:p.Thr144Ile
ENST00000591534.5:c.974C>T	ENSP00000467329.1:p.Thr325Ile
ENST00000591849.5:c.200C>T	ENSP00000465347.1:p.Thr67Ile
NM_007294.3:c.5501C>T , LRG_292t1:c.5501C>T	NP_009225.1:p.Thr1834Ile
NM_007297.3:c.5360C>T	NP_009228.2:p.Thr1787Ile
NM_007298.3:c.2189C>T	NP_009229.2:p.Thr730Ile
NM_007299.3:c.*15C>T	NP_009230.2:n.*15C>T
NM_007300.3:c.5564C>T	NP_009231.2:p.Thr1855Ile
NR_027676.1:n.5637C>T
NM_007294.4:c.5501C>T MANE Select	NP_009225.1:p.Thr1834Ile
NM_007297.4:c.5360C>T	NP_009228.2:p.Thr1787Ile
NM_007299.4:c.*15C>T	NP_009230.2:n.*15C>T
NM_007300.4:c.5564C>T	NP_009231.2:p.Thr1855Ile
NR_027676.2:n.5678C>T