Canonical Allele Identifier: CA10592224

Gene: BRCA1

Linked Data

• dbSNP Id: rs2153992935
• MyVariant Identifiers: chr17:g.41226378C>T (hg19) ; chr17:g.43074361C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074361C>T , CM000679.2:g.43074361C>T	GRCh38
NC_000017.10:g.41226378C>T , CM000679.1:g.41226378C>T	GRCh37
NC_000017.9:g.38479904C>T	NCBI36
NG_005905.2:g.143623G>A , LRG_292:g.143623G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4642G>A	ENSP00000417241.2:p.Glu1548Lys
ENST00000470026.6:c.4645G>A	ENSP00000419274.2:p.Glu1549Lys
ENST00000473961.6:c.4519G>A	ENSP00000420201.2:p.Glu1507Lys
ENST00000476777.6:c.4639G>A	ENSP00000417554.2:p.Glu1547Lys
ENST00000477152.6:c.4567G>A	ENSP00000419988.2:p.Glu1523Lys
ENST00000478531.6:c.1333G>A	ENSP00000420412.2:p.Glu445Lys
ENST00000489037.2:c.4567G>A	ENSP00000420781.2:p.Glu1523Lys
ENST00000493919.6:c.1195G>A	ENSP00000418819.2:p.Glu399Lys
ENST00000494123.6:c.4645G>A	ENSP00000419103.2:p.Glu1549Lys
ENST00000497488.2:c.3757G>A	ENSP00000418986.2:p.Glu1253Lys
ENST00000618469.2:c.4645G>A	ENSP00000478114.2:p.Glu1549Lys
ENST00000634433.2:c.4522G>A	ENSP00000489431.2:p.Glu1508Lys
ENST00000644379.2:c.4711G>A	ENSP00000496570.2:p.Glu1571Lys
ENST00000644555.2:c.1195G>A	ENSP00000494614.2:p.Glu399Lys
ENST00000652672.2:c.4504G>A	ENSP00000498906.2:p.Glu1502Lys
ENST00000484087.6:c.1207G>A	ENSP00000419481.2:p.Glu403Lys
ENST00000700182.1:c.1252G>A	ENSP00000514849.1:p.Glu418Lys
ENST00000357654.9:c.4645G>A MANE Select	ENSP00000350283.3:p.Glu1549Lys
ENST00000471181.7:c.4708G>A	ENSP00000418960.2:p.Glu1570Lys
ENST00000644379.1:c.1032G>A
ENST00000352993.7:c.1219G>A	ENSP00000312236.5:p.Glu407Lys
ENST00000357654.7:c.4645G>A	ENSP00000350283.3:p.Glu1549Lys
ENST00000461221.5:c.*4428G>A	ENSP00000418548.1:n.*4428G>A
ENST00000468300.5:c.1333G>A	ENSP00000417148.1:p.Glu445Lys
ENST00000471181.6:c.4708G>A	ENSP00000418960.2:p.Glu1570Lys
ENST00000478531.5:c.1333G>A	ENSP00000420412.1:p.Glu445Lys
ENST00000484087.5:c.958G>A	ENSP00000419481.1:p.Glu320Lys
ENST00000491747.6:c.1333G>A	ENSP00000420705.2:p.Glu445Lys
ENST00000493795.5:c.4504G>A	ENSP00000418775.1:p.Glu1502Lys
ENST00000493919.5:c.1195G>A	ENSP00000418819.1:p.Glu399Lys
ENST00000586385.5:c.5-10410G>A	ENSP00000465818.1:n.5-10410G>A
ENST00000591534.5:c.118G>A	ENSP00000467329.1:p.Glu40Lys
ENST00000591849.5:c.-98-24171G>A	ENSP00000465347.1:n.-98-24171G>A
NM_007294.3:c.4645G>A , LRG_292t1:c.4645G>A	NP_009225.1:p.Glu1549Lys
NM_007297.3:c.4504G>A	NP_009228.2:p.Glu1502Lys
NM_007298.3:c.1333G>A	NP_009229.2:p.Glu445Lys
NM_007299.3:c.1333G>A	NP_009230.2:p.Glu445Lys
NM_007300.3:c.4708G>A	NP_009231.2:p.Glu1570Lys
NR_027676.1:n.4781G>A
NM_007294.4:c.4645G>A MANE Select	NP_009225.1:p.Glu1549Lys
NM_007297.4:c.4504G>A	NP_009228.2:p.Glu1502Lys
NM_007299.4:c.1333G>A	NP_009230.2:p.Glu445Lys
NM_007300.4:c.4708G>A	NP_009231.2:p.Glu1570Lys
NR_027676.2:n.4822G>A