Canonical Allele Identifier: CA10592659

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 945255
• ClinVar RCV Id: RCV001215850
• dbSNP Id: rs2052727249
• MyVariant Identifiers: chr17:g.41228551A>G (hg19) ; chr17:g.43076534A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076534A>G , CM000679.2:g.43076534A>G	GRCh38
NC_000017.10:g.41228551A>G , CM000679.1:g.41228551A>G	GRCh37
NC_000017.9:g.38482077A>G	NCBI36
NG_005905.2:g.141450T>C , LRG_292:g.141450T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4435T>C	ENSP00000417241.2:p.Ser1479Pro
ENST00000470026.6:c.4438T>C	ENSP00000419274.2:p.Ser1480Pro
ENST00000473961.6:c.4312T>C	ENSP00000420201.2:p.Ser1438Pro
ENST00000476777.6:c.4432T>C	ENSP00000417554.2:p.Ser1478Pro
ENST00000477152.6:c.4360T>C	ENSP00000419988.2:p.Ser1454Pro
ENST00000478531.6:c.1126T>C	ENSP00000420412.2:p.Ser376Pro
ENST00000489037.2:c.4360T>C	ENSP00000420781.2:p.Ser1454Pro
ENST00000493919.6:c.988T>C	ENSP00000418819.2:p.Ser330Pro
ENST00000494123.6:c.4438T>C	ENSP00000419103.2:p.Ser1480Pro
ENST00000497488.2:c.3550T>C	ENSP00000418986.2:p.Ser1184Pro
ENST00000618469.2:c.4438T>C	ENSP00000478114.2:p.Ser1480Pro
ENST00000634433.2:c.4315T>C	ENSP00000489431.2:p.Ser1439Pro
ENST00000644379.2:c.4504T>C	ENSP00000496570.2:p.Ser1502Pro
ENST00000644555.2:c.988T>C	ENSP00000494614.2:p.Ser330Pro
ENST00000652672.2:c.4297T>C	ENSP00000498906.2:p.Ser1433Pro
ENST00000484087.6:c.1000T>C	ENSP00000419481.2:p.Ser334Pro
ENST00000700182.1:c.1045T>C	ENSP00000514849.1:p.Ser349Pro
ENST00000357654.9:c.4438T>C MANE Select	ENSP00000350283.3:p.Ser1480Pro
ENST00000471181.7:c.4501T>C	ENSP00000418960.2:p.Ser1501Pro
ENST00000644379.1:c.825T>C
ENST00000352993.7:c.1012T>C	ENSP00000312236.5:p.Ser338Pro
ENST00000357654.7:c.4438T>C	ENSP00000350283.3:p.Ser1480Pro
ENST00000461221.5:c.*4221T>C	ENSP00000418548.1:n.*4221T>C
ENST00000468300.5:c.1126T>C	ENSP00000417148.1:p.Ser376Pro
ENST00000471181.6:c.4501T>C	ENSP00000418960.2:p.Ser1501Pro
ENST00000478531.5:c.1126T>C	ENSP00000420412.1:p.Ser376Pro
ENST00000484087.5:c.751T>C	ENSP00000419481.1:p.Ser251Pro
ENST00000487825.5:c.754T>C	ENSP00000418212.1:p.Ser252Pro
ENST00000491747.6:c.1126T>C	ENSP00000420705.2:p.Ser376Pro
ENST00000493795.5:c.4297T>C	ENSP00000418775.1:p.Ser1433Pro
ENST00000493919.5:c.988T>C	ENSP00000418819.1:p.Ser330Pro
ENST00000586385.5:c.5-12583T>C	ENSP00000465818.1:n.5-12583T>C
ENST00000591534.5:c.-43-2013T>C	ENSP00000467329.1:n.-43-2013T>C
ENST00000591849.5:c.-98-26344T>C	ENSP00000465347.1:n.-98-26344T>C
ENST00000621897.1:n.329T>C
NM_007294.3:c.4438T>C , LRG_292t1:c.4438T>C	NP_009225.1:p.Ser1480Pro
NM_007297.3:c.4297T>C	NP_009228.2:p.Ser1433Pro
NM_007298.3:c.1126T>C	NP_009229.2:p.Ser376Pro
NM_007299.3:c.1126T>C	NP_009230.2:p.Ser376Pro
NM_007300.3:c.4501T>C	NP_009231.2:p.Ser1501Pro
NR_027676.1:n.4574T>C
NM_007294.4:c.4438T>C MANE Select	NP_009225.1:p.Ser1480Pro
NM_007297.4:c.4297T>C	NP_009228.2:p.Ser1433Pro
NM_007299.4:c.1126T>C	NP_009230.2:p.Ser376Pro
NM_007300.4:c.4501T>C	NP_009231.2:p.Ser1501Pro
NR_027676.2:n.4615T>C