Canonical Allele Identifier: CA10580500

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067641T>G , CM000679.2:g.43067641T>G	GRCh38
NC_000017.10:g.41219658T>G , CM000679.1:g.41219658T>G	GRCh37
NC_000017.9:g.38473184T>G	NCBI36
NG_005905.2:g.150343A>C , LRG_292:g.150343A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5038A>C	ENSP00000417241.2:p.Thr1680Pro
ENST00000470026.6:c.5041A>C	ENSP00000419274.2:p.Thr1681Pro
ENST00000473961.6:c.4915A>C	ENSP00000420201.2:p.Thr1639Pro
ENST00000476777.6:c.5035A>C	ENSP00000417554.2:p.Thr1679Pro
ENST00000477152.6:c.4963A>C	ENSP00000419988.2:p.Thr1655Pro
ENST00000478531.6:c.1729A>C	ENSP00000420412.2:p.Thr577Pro
ENST00000489037.2:c.4963A>C	ENSP00000420781.2:p.Thr1655Pro
ENST00000493919.6:c.1591A>C	ENSP00000418819.2:p.Thr531Pro
ENST00000494123.6:c.5041A>C	ENSP00000419103.2:p.Thr1681Pro
ENST00000497488.2:c.4153A>C	ENSP00000418986.2:p.Thr1385Pro
ENST00000618469.2:c.5041A>C	ENSP00000478114.2:p.Thr1681Pro
ENST00000634433.2:c.4918A>C	ENSP00000489431.2:p.Thr1640Pro
ENST00000644379.2:c.5107A>C	ENSP00000496570.2:p.Thr1703Pro
ENST00000644555.2:c.1591A>C	ENSP00000494614.2:p.Thr531Pro
ENST00000652672.2:c.4900A>C	ENSP00000498906.2:p.Thr1634Pro
ENST00000484087.6:c.1603A>C	ENSP00000419481.2:p.Thr535Pro
ENST00000357654.9:c.5041A>C MANE Select	ENSP00000350283.3:p.Thr1681Pro
ENST00000471181.7:c.5104A>C	ENSP00000418960.2:p.Thr1702Pro
ENST00000644379.1:c.1428A>C
ENST00000352993.7:c.1615A>C	ENSP00000312236.5:p.Thr539Pro
ENST00000357654.7:c.5041A>C	ENSP00000350283.3:p.Thr1681Pro
ENST00000461221.5:c.*4824A>C	ENSP00000418548.1:n.*4824A>C
ENST00000468300.5:c.1729A>C	ENSP00000417148.1:p.Thr577Pro
ENST00000471181.6:c.5104A>C	ENSP00000418960.2:p.Thr1702Pro
ENST00000472490.1:n.194A>C
ENST00000478531.5:c.1729A>C	ENSP00000420412.1:p.Thr577Pro
ENST00000484087.5:c.1354A>C	ENSP00000419481.1:p.Thr452Pro
ENST00000491747.6:c.1729A>C	ENSP00000420705.2:p.Thr577Pro
ENST00000493795.5:c.4900A>C	ENSP00000418775.1:p.Thr1634Pro
ENST00000493919.5:c.1591A>C	ENSP00000418819.1:p.Thr531Pro
ENST00000586385.5:c.5-3690A>C	ENSP00000465818.1:n.5-3690A>C
ENST00000591534.5:c.514A>C	ENSP00000467329.1:p.Thr172Pro
ENST00000591849.5:c.-98-17451A>C	ENSP00000465347.1:n.-98-17451A>C
NM_007294.3:c.5041A>C , LRG_292t1:c.5041A>C	NP_009225.1:p.Thr1681Pro
NM_007297.3:c.4900A>C	NP_009228.2:p.Thr1634Pro
NM_007298.3:c.1729A>C	NP_009229.2:p.Thr577Pro
NM_007299.3:c.1729A>C	NP_009230.2:p.Thr577Pro
NM_007300.3:c.5104A>C	NP_009231.2:p.Thr1702Pro
NR_027676.1:n.5177A>C
NM_007294.4:c.5041A>C MANE Select	NP_009225.1:p.Thr1681Pro
NM_007297.4:c.4900A>C	NP_009228.2:p.Thr1634Pro
NM_007299.4:c.1729A>C	NP_009230.2:p.Thr577Pro
NM_007300.4:c.5104A>C	NP_009231.2:p.Thr1702Pro
NR_027676.2:n.5218A>C