Canonical Allele Identifier: CA002724

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55148
• ClinVar RCV Id: RCV000577308 ; RCV000661143 ; RCV001388613
• dbSNP Id: rs397509153
• MyVariant Identifiers: chr17:g.41234541C>A (hg19) ; chr17:g.43082524C>A (hg38)
• PubMed: PMID:21859355

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082524C>A , CM000679.2:g.43082524C>A	GRCh38
NC_000017.10:g.41234541C>A , CM000679.1:g.41234541C>A	GRCh37
NC_000017.9:g.38488067C>A	NCBI36
NG_005905.2:g.135460G>T , LRG_292:g.135460G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4237G>T	ENSP00000417241.2:p.Glu1413Ter
ENST00000470026.6:c.4237G>T	ENSP00000419274.2:p.Glu1413Ter
ENST00000473961.6:c.4111G>T	ENSP00000420201.2:p.Glu1371Ter
ENST00000476777.6:c.4231G>T	ENSP00000417554.2:p.Glu1411Ter
ENST00000477152.6:c.4159G>T	ENSP00000419988.2:p.Glu1387Ter
ENST00000478531.6:c.925G>T	ENSP00000420412.2:p.Glu309Ter
ENST00000489037.2:c.4159G>T	ENSP00000420781.2:p.Glu1387Ter
ENST00000493919.6:c.787G>T	ENSP00000418819.2:p.Glu263Ter
ENST00000494123.6:c.4237G>T	ENSP00000419103.2:p.Glu1413Ter
ENST00000497488.2:c.3349G>T	ENSP00000418986.2:p.Glu1117Ter
ENST00000618469.2:c.4237G>T	ENSP00000478114.2:p.Glu1413Ter
ENST00000634433.2:c.4114G>T	ENSP00000489431.2:p.Glu1372Ter
ENST00000644379.2:c.4237G>T	ENSP00000496570.2:p.Glu1413Ter
ENST00000644555.2:c.787G>T	ENSP00000494614.2:p.Glu263Ter
ENST00000652672.2:c.4096G>T	ENSP00000498906.2:p.Glu1366Ter
ENST00000484087.6:c.802G>T	ENSP00000419481.2:p.Glu268Ter
ENST00000700182.1:c.847G>T	ENSP00000514849.1:p.Glu283Ter
ENST00000357654.9:c.4237G>T MANE Select	ENSP00000350283.3:p.Glu1413Ter
ENST00000471181.7:c.4237G>T	ENSP00000418960.2:p.Glu1413Ter
ENST00000644379.1:c.558G>T
ENST00000352993.7:c.811G>T	ENSP00000312236.5:p.Glu271Ter
ENST00000357654.7:c.4237G>T	ENSP00000350283.3:p.Glu1413Ter
ENST00000461221.5:c.*4020G>T	ENSP00000418548.1:n.*4020G>T
ENST00000461574.1:c.531G>T
ENST00000468300.5:c.928G>T	ENSP00000417148.1:p.Glu310Ter
ENST00000471181.6:c.4237G>T	ENSP00000418960.2:p.Glu1413Ter
ENST00000478531.5:c.925G>T	ENSP00000420412.1:p.Glu309Ter
ENST00000484087.5:c.550G>T	ENSP00000419481.1:p.Glu184Ter
ENST00000487825.5:c.553G>T	ENSP00000418212.1:p.Glu185Ter
ENST00000491747.6:c.928G>T	ENSP00000420705.2:p.Glu310Ter
ENST00000493795.5:c.4096G>T	ENSP00000418775.1:p.Glu1366Ter
ENST00000493919.5:c.787G>T	ENSP00000418819.1:p.Glu263Ter
ENST00000586385.5:c.5-18573G>T	ENSP00000465818.1:n.5-18573G>T
ENST00000591534.5:c.-43-8003G>T	ENSP00000467329.1:n.-43-8003G>T
ENST00000591849.5:c.-98-32334G>T	ENSP00000465347.1:n.-98-32334G>T
ENST00000621897.1:n.131G>T
NM_007294.3:c.4237G>T , LRG_292t1:c.4237G>T	NP_009225.1:p.Glu1413Ter
NM_007297.3:c.4096G>T	NP_009228.2:p.Glu1366Ter
NM_007298.3:c.928G>T	NP_009229.2:p.Glu310Ter
NM_007299.3:c.928G>T	NP_009230.2:p.Glu310Ter
NM_007300.3:c.4237G>T	NP_009231.2:p.Glu1413Ter
NR_027676.1:n.4373G>T
NM_007294.4:c.4237G>T MANE Select	NP_009225.1:p.Glu1413Ter
NM_007297.4:c.4096G>T	NP_009228.2:p.Glu1366Ter
NM_007299.4:c.928G>T	NP_009230.2:p.Glu310Ter
NM_007300.4:c.4237G>T	NP_009231.2:p.Glu1413Ter
NR_027676.2:n.4414G>T