Canonical Allele Identifier: CA003252

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55407
• ClinVar RCV Id: RCV000048802 ; RCV000077599 ; RCV000167826 ; RCV000131831 ; RCV000457403 ; RCV000413608 ; RCV001579293 ; RCV003149709
• dbSNP Id: rs28897696
• ExAC: 17:41215920 G / T
• gnomAD v2: 17-41215920-G-T
• gnomAD v4: 17-43063903-G-T
• MyVariant Identifiers: chr17:g.41215920G>T (hg19) ; chr17:g.43063903G>T (hg38)
• PubMed: PMID:7939630 ; PMID:9523200 ; PMID:10737987 ; PMID:11157798 ; PMID:11802208 ; PMID:11916966 ; PMID:12955716 ; PMID:15235020 ; PMID:15340362 ; PMID:15923272 ; PMID:16267036 ; PMID:16758124 ; PMID:17080309 ; PMID:17591843 ; PMID:17924331 ; PMID:18036263 ; PMID:19404736 ; PMID:19770520 ; PMID:20215541 ; PMID:20516115 ; PMID:20960228 ; PMID:21063910 ; PMID:21520273 ; PMID:21702907 ; PMID:21990134 ; PMID:22044689 ; PMID:22399190 ; PMID:23199084 ; PMID:23233716 ; PMID:23469205 ; PMID:23479189 ; PMID:23867111 ; PMID:24742220 ; PMID:24884479 ; PMID:25085752 ; PMID:26295337 ; PMID:26656232 ; PMID:27272900 ; PMID:28477318

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063903G>T , CM000679.2:g.43063903G>T	GRCh38
NC_000017.10:g.41215920G>T , CM000679.1:g.41215920G>T	GRCh37
NC_000017.9:g.38469446G>T	NCBI36
NG_005905.2:g.154081C>A , LRG_292:g.154081C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5120C>A	ENSP00000417241.2:p.Ala1707Glu
ENST00000470026.6:c.5123C>A	ENSP00000419274.2:p.Ala1708Glu
ENST00000473961.6:c.4997C>A	ENSP00000420201.2:p.Ala1666Glu
ENST00000476777.6:c.5117C>A	ENSP00000417554.2:p.Ala1706Glu
ENST00000477152.6:c.5045C>A	ENSP00000419988.2:p.Ala1682Glu
ENST00000478531.6:c.1811C>A	ENSP00000420412.2:p.Ala604Glu
ENST00000489037.2:c.5045C>A	ENSP00000420781.2:p.Ala1682Glu
ENST00000493919.6:c.1673C>A	ENSP00000418819.2:p.Ala558Glu
ENST00000494123.6:c.5123C>A	ENSP00000419103.2:p.Ala1708Glu
ENST00000497488.2:c.4235C>A	ENSP00000418986.2:p.Ala1412Glu
ENST00000618469.2:c.5123C>A	ENSP00000478114.2:p.Ala1708Glu
ENST00000634433.2:c.5000C>A	ENSP00000489431.2:p.Ala1667Glu
ENST00000644379.2:c.5189C>A	ENSP00000496570.2:p.Ala1730Glu
ENST00000644555.2:c.1673C>A	ENSP00000494614.2:p.Ala558Glu
ENST00000652672.2:c.4982C>A	ENSP00000498906.2:p.Ala1661Glu
ENST00000484087.6:c.1685C>A	ENSP00000419481.2:p.Ala562Glu
ENST00000357654.9:c.5123C>A MANE Select	ENSP00000350283.3:p.Ala1708Glu
ENST00000471181.7:c.5186C>A	ENSP00000418960.2:p.Ala1729Glu
ENST00000644379.1:c.1510C>A
ENST00000352993.7:c.1697C>A	ENSP00000312236.5:p.Ala566Glu
ENST00000357654.7:c.5123C>A	ENSP00000350283.3:p.Ala1708Glu
ENST00000461221.5:c.*4906C>A	ENSP00000418548.1:n.*4906C>A
ENST00000468300.5:c.1811C>A	ENSP00000417148.1:p.Ala604Glu
ENST00000471181.6:c.5186C>A	ENSP00000418960.2:p.Ala1729Glu
ENST00000478531.5:c.1811C>A	ENSP00000420412.1:p.Ala604Glu
ENST00000484087.5:c.1436C>A	ENSP00000419481.1:p.Ala479Glu
ENST00000491747.6:c.1811C>A	ENSP00000420705.2:p.Ala604Glu
ENST00000493795.5:c.4982C>A	ENSP00000418775.1:p.Ala1661Glu
ENST00000493919.5:c.1673C>A	ENSP00000418819.1:p.Ala558Glu
ENST00000586385.5:c.53C>A	ENSP00000465818.1:p.Ala18Glu
ENST00000591534.5:c.596C>A	ENSP00000467329.1:p.Ala199Glu
ENST00000591849.5:c.-98-13713C>A	ENSP00000465347.1:n.-98-13713C>A
NM_007294.3:c.5123C>A , LRG_292t1:c.5123C>A	NP_009225.1:p.Ala1708Glu
NM_007297.3:c.4982C>A	NP_009228.2:p.Ala1661Glu
NM_007298.3:c.1811C>A	NP_009229.2:p.Ala604Glu
NM_007299.3:c.1811C>A	NP_009230.2:p.Ala604Glu
NM_007300.3:c.5186C>A	NP_009231.2:p.Ala1729Glu
NR_027676.1:n.5259C>A
NM_007294.4:c.5123C>A MANE Select	NP_009225.1:p.Ala1708Glu
NM_007297.4:c.4982C>A	NP_009228.2:p.Ala1661Glu
NM_007299.4:c.1811C>A	NP_009230.2:p.Ala604Glu
NM_007300.4:c.5186C>A	NP_009231.2:p.Ala1729Glu
NR_027676.2:n.5300C>A