Canonical Allele Identifier: CA10592720

Gene: BRCA1

Linked Data

• dbSNP Id: rs886040230
• MyVariant Identifiers: chr17:g.41228581C>T (hg19) ; chr17:g.43076564C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076564C>T , CM000679.2:g.43076564C>T	GRCh38
NC_000017.10:g.41228581C>T , CM000679.1:g.41228581C>T	GRCh37
NC_000017.9:g.38482107C>T	NCBI36
NG_005905.2:g.141420G>A , LRG_292:g.141420G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4405G>A	ENSP00000417241.2:p.Glu1469Lys
ENST00000470026.6:c.4408G>A	ENSP00000419274.2:p.Glu1470Lys
ENST00000473961.6:c.4282G>A	ENSP00000420201.2:p.Glu1428Lys
ENST00000476777.6:c.4402G>A	ENSP00000417554.2:p.Glu1468Lys
ENST00000477152.6:c.4330G>A	ENSP00000419988.2:p.Glu1444Lys
ENST00000478531.6:c.1096G>A	ENSP00000420412.2:p.Glu366Lys
ENST00000489037.2:c.4330G>A	ENSP00000420781.2:p.Glu1444Lys
ENST00000493919.6:c.958G>A	ENSP00000418819.2:p.Glu320Lys
ENST00000494123.6:c.4408G>A	ENSP00000419103.2:p.Glu1470Lys
ENST00000497488.2:c.3520G>A	ENSP00000418986.2:p.Glu1174Lys
ENST00000618469.2:c.4408G>A	ENSP00000478114.2:p.Glu1470Lys
ENST00000634433.2:c.4285G>A	ENSP00000489431.2:p.Glu1429Lys
ENST00000644379.2:c.4474G>A	ENSP00000496570.2:p.Glu1492Lys
ENST00000644555.2:c.958G>A	ENSP00000494614.2:p.Glu320Lys
ENST00000652672.2:c.4267G>A	ENSP00000498906.2:p.Glu1423Lys
ENST00000484087.6:c.970G>A	ENSP00000419481.2:p.Glu324Lys
ENST00000700182.1:c.1015G>A	ENSP00000514849.1:p.Glu339Lys
ENST00000357654.9:c.4408G>A MANE Select	ENSP00000350283.3:p.Glu1470Lys
ENST00000471181.7:c.4471G>A	ENSP00000418960.2:p.Glu1491Lys
ENST00000644379.1:c.795G>A
ENST00000352993.7:c.982G>A	ENSP00000312236.5:p.Glu328Lys
ENST00000357654.7:c.4408G>A	ENSP00000350283.3:p.Glu1470Lys
ENST00000461221.5:c.*4191G>A	ENSP00000418548.1:n.*4191G>A
ENST00000461574.1:c.699G>A
ENST00000468300.5:c.1096G>A	ENSP00000417148.1:p.Glu366Lys
ENST00000471181.6:c.4471G>A	ENSP00000418960.2:p.Glu1491Lys
ENST00000478531.5:c.1096G>A	ENSP00000420412.1:p.Glu366Lys
ENST00000484087.5:c.721G>A	ENSP00000419481.1:p.Glu241Lys
ENST00000487825.5:c.724G>A	ENSP00000418212.1:p.Glu242Lys
ENST00000491747.6:c.1096G>A	ENSP00000420705.2:p.Glu366Lys
ENST00000493795.5:c.4267G>A	ENSP00000418775.1:p.Glu1423Lys
ENST00000493919.5:c.958G>A	ENSP00000418819.1:p.Glu320Lys
ENST00000586385.5:c.5-12613G>A	ENSP00000465818.1:n.5-12613G>A
ENST00000591534.5:c.-43-2043G>A	ENSP00000467329.1:n.-43-2043G>A
ENST00000591849.5:c.-98-26374G>A	ENSP00000465347.1:n.-98-26374G>A
ENST00000621897.1:n.299G>A
NM_007294.3:c.4408G>A , LRG_292t1:c.4408G>A	NP_009225.1:p.Glu1470Lys
NM_007297.3:c.4267G>A	NP_009228.2:p.Glu1423Lys
NM_007298.3:c.1096G>A	NP_009229.2:p.Glu366Lys
NM_007299.3:c.1096G>A	NP_009230.2:p.Glu366Lys
NM_007300.3:c.4471G>A	NP_009231.2:p.Glu1491Lys
NR_027676.1:n.4544G>A
NM_007294.4:c.4408G>A MANE Select	NP_009225.1:p.Glu1470Lys
NM_007297.4:c.4267G>A	NP_009228.2:p.Glu1423Lys
NM_007299.4:c.1096G>A	NP_009230.2:p.Glu366Lys
NM_007300.4:c.4471G>A	NP_009231.2:p.Glu1491Lys
NR_027676.2:n.4585G>A