Canonical Allele Identifier: CA003711

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 182174
• ClinVar RCV Id: RCV000160015 ; RCV001040100 ; RCV001078072 ; RCV000509851
• dbSNP Id: rs730881502
• MyVariant Identifiers: chr17:g.41197732G>A (hg19) ; chr17:g.43045715G>A (hg38)
• PubMed: PMID:17972177

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045715G>A , CM000679.2:g.43045715G>A	GRCh38
NC_000017.10:g.41197732G>A , CM000679.1:g.41197732G>A	GRCh37
NC_000017.9:g.38451258G>A	NCBI36
NG_005905.2:g.172269C>T , LRG_292:g.172269C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5552C>T	ENSP00000417241.2:p.Thr1851Ile
ENST00000470026.6:c.5555C>T	ENSP00000419274.2:p.Thr1852Ile
ENST00000473961.6:c.5429C>T	ENSP00000420201.2:p.Thr1810Ile
ENST00000476777.6:c.5549C>T	ENSP00000417554.2:p.Thr1850Ile
ENST00000477152.6:c.5477C>T	ENSP00000419988.2:p.Thr1826Ile
ENST00000478531.6:c.2243C>T	ENSP00000420412.2:p.Thr748Ile
ENST00000489037.2:c.5477C>T	ENSP00000420781.2:p.Thr1826Ile
ENST00000493919.6:c.2105C>T	ENSP00000418819.2:p.Thr702Ile
ENST00000494123.6:c.5555C>T	ENSP00000419103.2:p.Thr1852Ile
ENST00000497488.2:c.4667C>T	ENSP00000418986.2:p.Thr1556Ile
ENST00000618469.2:c.5555C>T	ENSP00000478114.2:p.Thr1852Ile
ENST00000634433.2:c.5432C>T	ENSP00000489431.2:p.Thr1811Ile
ENST00000644379.2:c.5621C>T	ENSP00000496570.2:p.Thr1874Ile
ENST00000644555.2:c.2105C>T	ENSP00000494614.2:p.Thr702Ile
ENST00000652672.2:c.5414C>T	ENSP00000498906.2:p.Thr1805Ile
ENST00000484087.6:c.2117C>T	ENSP00000419481.2:p.Thr706Ile
ENST00000700081.1:n.1438C>T
ENST00000700082.1:n.919C>T
ENST00000357654.9:c.5555C>T MANE Select	ENSP00000350283.3:p.Thr1852Ile
ENST00000471181.7:c.5618C>T	ENSP00000418960.2:p.Thr1873Ile
ENST00000644379.1:c.1942C>T
ENST00000352993.7:c.2129C>T	ENSP00000312236.5:p.Thr710Ile
ENST00000357654.7:c.5555C>T	ENSP00000350283.3:p.Thr1852Ile
ENST00000461221.5:c.*5338C>T	ENSP00000418548.1:n.*5338C>T
ENST00000468300.5:c.*69C>T	ENSP00000417148.1:n.*69C>T
ENST00000471181.6:c.5618C>T	ENSP00000418960.2:p.Thr1873Ile
ENST00000491747.6:c.2243C>T	ENSP00000420705.2:p.Thr748Ile
ENST00000493795.5:c.5414C>T	ENSP00000418775.1:p.Thr1805Ile
ENST00000586385.5:c.485C>T	ENSP00000465818.1:p.Thr162Ile
ENST00000591534.5:c.1028C>T	ENSP00000467329.1:p.Thr343Ile
ENST00000591849.5:c.254C>T	ENSP00000465347.1:p.Thr85Ile
NM_007294.3:c.5555C>T , LRG_292t1:c.5555C>T	NP_009225.1:p.Thr1852Ile
NM_007297.3:c.5414C>T	NP_009228.2:p.Thr1805Ile
NM_007298.3:c.2243C>T	NP_009229.2:p.Thr748Ile
NM_007299.3:c.*69C>T	NP_009230.2:n.*69C>T
NM_007300.3:c.5618C>T	NP_009231.2:p.Thr1873Ile
NR_027676.1:n.5691C>T
NM_007294.4:c.5555C>T MANE Select	NP_009225.1:p.Thr1852Ile
NM_007297.4:c.5414C>T	NP_009228.2:p.Thr1805Ile
NM_007299.4:c.*69C>T	NP_009230.2:n.*69C>T
NM_007300.4:c.5618C>T	NP_009231.2:p.Thr1873Ile
NR_027676.2:n.5732C>T