Canonical Allele Identifier: CA10591598

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 373826
• ClinVar RCV Id: RCV000414437 ; RCV000675184 ; RCV000989875 ; RCV001357954 ; RCV003237839
• dbSNP Id: rs1057518639
• MyVariant Identifiers: chr17:g.41222968A>G (hg19) ; chr17:g.43070951A>G (hg38)
• PubMed: PMID:23469205 ; PMID:24884479

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070951A>G , CM000679.2:g.43070951A>G	GRCh38
NC_000017.10:g.41222968A>G , CM000679.1:g.41222968A>G	GRCh37
NC_000017.9:g.38476494A>G	NCBI36
NG_005905.2:g.147033T>C , LRG_292:g.147033T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4960T>C	ENSP00000417241.2:p.Ser1654Pro
ENST00000470026.6:c.4963T>C	ENSP00000419274.2:p.Ser1655Pro
ENST00000473961.6:c.4837T>C	ENSP00000420201.2:p.Ser1613Pro
ENST00000476777.6:c.4957T>C	ENSP00000417554.2:p.Ser1653Pro
ENST00000477152.6:c.4885T>C	ENSP00000419988.2:p.Ser1629Pro
ENST00000478531.6:c.1651T>C	ENSP00000420412.2:p.Ser551Pro
ENST00000489037.2:c.4885T>C	ENSP00000420781.2:p.Ser1629Pro
ENST00000493919.6:c.1513T>C	ENSP00000418819.2:p.Ser505Pro
ENST00000494123.6:c.4963T>C	ENSP00000419103.2:p.Ser1655Pro
ENST00000497488.2:c.4075T>C	ENSP00000418986.2:p.Ser1359Pro
ENST00000618469.2:c.4963T>C	ENSP00000478114.2:p.Ser1655Pro
ENST00000634433.2:c.4840T>C	ENSP00000489431.2:p.Ser1614Pro
ENST00000644379.2:c.5029T>C	ENSP00000496570.2:p.Ser1677Pro
ENST00000644555.2:c.1513T>C	ENSP00000494614.2:p.Ser505Pro
ENST00000652672.2:c.4822T>C	ENSP00000498906.2:p.Ser1608Pro
ENST00000484087.6:c.1525T>C	ENSP00000419481.2:p.Ser509Pro
ENST00000700182.1:c.1570T>C	ENSP00000514849.1:p.Ser524Pro
ENST00000357654.9:c.4963T>C MANE Select	ENSP00000350283.3:p.Ser1655Pro
ENST00000471181.7:c.5026T>C	ENSP00000418960.2:p.Ser1676Pro
ENST00000644379.1:c.1350T>C
ENST00000352993.7:c.1537T>C	ENSP00000312236.5:p.Ser513Pro
ENST00000357654.7:c.4963T>C	ENSP00000350283.3:p.Ser1655Pro
ENST00000461221.5:c.*4746T>C	ENSP00000418548.1:n.*4746T>C
ENST00000468300.5:c.1651T>C	ENSP00000417148.1:p.Ser551Pro
ENST00000471181.6:c.5026T>C	ENSP00000418960.2:p.Ser1676Pro
ENST00000472490.1:n.116T>C
ENST00000478531.5:c.1651T>C	ENSP00000420412.1:p.Ser551Pro
ENST00000484087.5:c.1276T>C	ENSP00000419481.1:p.Ser426Pro
ENST00000491747.6:c.1651T>C	ENSP00000420705.2:p.Ser551Pro
ENST00000493795.5:c.4822T>C	ENSP00000418775.1:p.Ser1608Pro
ENST00000493919.5:c.1513T>C	ENSP00000418819.1:p.Ser505Pro
ENST00000586385.5:c.5-7000T>C	ENSP00000465818.1:n.5-7000T>C
ENST00000591534.5:c.436T>C	ENSP00000467329.1:p.Ser146Pro
ENST00000591849.5:c.-98-20761T>C	ENSP00000465347.1:n.-98-20761T>C
NM_007294.3:c.4963T>C , LRG_292t1:c.4963T>C	NP_009225.1:p.Ser1655Pro
NM_007297.3:c.4822T>C	NP_009228.2:p.Ser1608Pro
NM_007298.3:c.1651T>C	NP_009229.2:p.Ser551Pro
NM_007299.3:c.1651T>C	NP_009230.2:p.Ser551Pro
NM_007300.3:c.5026T>C	NP_009231.2:p.Ser1676Pro
NR_027676.1:n.5099T>C
NM_007294.4:c.4963T>C MANE Select	NP_009225.1:p.Ser1655Pro
NM_007297.4:c.4822T>C	NP_009228.2:p.Ser1608Pro
NM_007299.4:c.1651T>C	NP_009230.2:p.Ser551Pro
NM_007300.4:c.5026T>C	NP_009231.2:p.Ser1676Pro
NR_027676.2:n.5140T>C