Canonical Allele Identifier: CA10593366

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090951G>C , CM000679.2:g.43090951G>C	GRCh38
NC_000017.10:g.41242968G>C , CM000679.1:g.41242968G>C	GRCh37
NC_000017.9:g.38496494G>C	NCBI36
NG_005905.2:g.127033C>G , LRG_292:g.127033C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4178C>G	ENSP00000417241.2:p.Thr1393Ser
ENST00000470026.6:c.4178C>G	ENSP00000419274.2:p.Thr1393Ser
ENST00000473961.6:c.4052C>G	ENSP00000420201.2:p.Thr1351Ser
ENST00000476777.6:c.4175C>G	ENSP00000417554.2:p.Thr1392Ser
ENST00000477152.6:c.4100C>G	ENSP00000419988.2:p.Thr1367Ser
ENST00000478531.6:c.866C>G	ENSP00000420412.2:p.Thr289Ser
ENST00000489037.2:c.4100C>G	ENSP00000420781.2:p.Thr1367Ser
ENST00000493919.6:c.728C>G	ENSP00000418819.2:p.Thr243Ser
ENST00000494123.6:c.4178C>G	ENSP00000419103.2:p.Thr1393Ser
ENST00000497488.2:c.3290C>G	ENSP00000418986.2:p.Thr1097Ser
ENST00000618469.2:c.4178C>G	ENSP00000478114.2:p.Thr1393Ser
ENST00000634433.2:c.4055C>G	ENSP00000489431.2:p.Thr1352Ser
ENST00000644379.2:c.4178C>G	ENSP00000496570.2:p.Thr1393Ser
ENST00000644555.2:c.728C>G	ENSP00000494614.2:p.Thr243Ser
ENST00000652672.2:c.4037C>G	ENSP00000498906.2:p.Thr1346Ser
ENST00000484087.6:c.746C>G	ENSP00000419481.2:p.Thr249Ser
ENST00000700182.1:c.788C>G	ENSP00000514849.1:p.Thr263Ser
ENST00000357654.9:c.4178C>G MANE Select	ENSP00000350283.3:p.Thr1393Ser
ENST00000471181.7:c.4178C>G	ENSP00000418960.2:p.Thr1393Ser
ENST00000644379.1:c.499C>G
ENST00000352993.7:c.752C>G	ENSP00000312236.5:p.Thr251Ser
ENST00000357654.7:c.4178C>G	ENSP00000350283.3:p.Thr1393Ser
ENST00000461221.5:c.*3961C>G	ENSP00000418548.1:n.*3961C>G
ENST00000461574.1:c.472C>G
ENST00000468300.5:c.869C>G	ENSP00000417148.1:p.Thr290Ser
ENST00000471181.6:c.4178C>G	ENSP00000418960.2:p.Thr1393Ser
ENST00000478531.5:c.866C>G	ENSP00000420412.1:p.Thr289Ser
ENST00000484087.5:c.491C>G	ENSP00000419481.1:p.Thr164Ser
ENST00000487825.5:c.494C>G	ENSP00000418212.1:p.Thr165Ser
ENST00000491747.6:c.869C>G	ENSP00000420705.2:p.Thr290Ser
ENST00000493795.5:c.4037C>G	ENSP00000418775.1:p.Thr1346Ser
ENST00000493919.5:c.728C>G	ENSP00000418819.1:p.Thr243Ser
ENST00000586385.5:c.5-27000C>G	ENSP00000465818.1:n.5-27000C>G
ENST00000591534.5:c.-43-16430C>G	ENSP00000467329.1:n.-43-16430C>G
ENST00000591849.5:c.-99+34320C>G	ENSP00000465347.1:n.-99+34320C>G
NM_007294.3:c.4178C>G , LRG_292t1:c.4178C>G	NP_009225.1:p.Thr1393Ser
NM_007297.3:c.4037C>G	NP_009228.2:p.Thr1346Ser
NM_007298.3:c.869C>G	NP_009229.2:p.Thr290Ser
NM_007299.3:c.869C>G	NP_009230.2:p.Thr290Ser
NM_007300.3:c.4178C>G	NP_009231.2:p.Thr1393Ser
NR_027676.1:n.4314C>G
NM_007294.4:c.4178C>G MANE Select	NP_009225.1:p.Thr1393Ser
NM_007297.4:c.4037C>G	NP_009228.2:p.Thr1346Ser
NM_007299.4:c.869C>G	NP_009230.2:p.Thr290Ser
NM_007300.4:c.4178C>G	NP_009231.2:p.Thr1393Ser
NR_027676.2:n.4355C>G