Canonical Allele Identifier: CA10590274

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 869004
• ClinVar RCV Id: RCV001078025
• dbSNP Id: rs80357368
• MyVariant Identifiers: chr17:g.41197765C>A (hg19) ; chr17:g.43045748C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045748C>A , CM000679.2:g.43045748C>A	GRCh38
NC_000017.10:g.41197765C>A , CM000679.1:g.41197765C>A	GRCh37
NC_000017.9:g.38451291C>A	NCBI36
NG_005905.2:g.172236G>T , LRG_292:g.172236G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5519G>T	ENSP00000417241.2:p.Ser1840Ile
ENST00000470026.6:c.5522G>T	ENSP00000419274.2:p.Ser1841Ile
ENST00000473961.6:c.5396G>T	ENSP00000420201.2:p.Ser1799Ile
ENST00000476777.6:c.5516G>T	ENSP00000417554.2:p.Ser1839Ile
ENST00000477152.6:c.5444G>T	ENSP00000419988.2:p.Ser1815Ile
ENST00000478531.6:c.2210G>T	ENSP00000420412.2:p.Ser737Ile
ENST00000489037.2:c.5444G>T	ENSP00000420781.2:p.Ser1815Ile
ENST00000493919.6:c.2072G>T	ENSP00000418819.2:p.Ser691Ile
ENST00000494123.6:c.5522G>T	ENSP00000419103.2:p.Ser1841Ile
ENST00000497488.2:c.4634G>T	ENSP00000418986.2:p.Ser1545Ile
ENST00000618469.2:c.5522G>T	ENSP00000478114.2:p.Ser1841Ile
ENST00000634433.2:c.5399G>T	ENSP00000489431.2:p.Ser1800Ile
ENST00000644379.2:c.5588G>T	ENSP00000496570.2:p.Ser1863Ile
ENST00000644555.2:c.2072G>T	ENSP00000494614.2:p.Ser691Ile
ENST00000652672.2:c.5381G>T	ENSP00000498906.2:p.Ser1794Ile
ENST00000484087.6:c.2084G>T	ENSP00000419481.2:p.Ser695Ile
ENST00000700081.1:n.1405G>T
ENST00000700082.1:n.886G>T
ENST00000357654.9:c.5522G>T MANE Select	ENSP00000350283.3:p.Ser1841Ile
ENST00000471181.7:c.5585G>T	ENSP00000418960.2:p.Ser1862Ile
ENST00000644379.1:c.1909G>T
ENST00000352993.7:c.2096G>T	ENSP00000312236.5:p.Ser699Ile
ENST00000357654.7:c.5522G>T	ENSP00000350283.3:p.Ser1841Ile
ENST00000461221.5:c.*5305G>T	ENSP00000418548.1:n.*5305G>T
ENST00000468300.5:c.*36G>T	ENSP00000417148.1:n.*36G>T
ENST00000471181.6:c.5585G>T	ENSP00000418960.2:p.Ser1862Ile
ENST00000491747.6:c.2210G>T	ENSP00000420705.2:p.Ser737Ile
ENST00000493795.5:c.5381G>T	ENSP00000418775.1:p.Ser1794Ile
ENST00000586385.5:c.452G>T	ENSP00000465818.1:p.Ser151Ile
ENST00000591534.5:c.995G>T	ENSP00000467329.1:p.Ser332Ile
ENST00000591849.5:c.221G>T	ENSP00000465347.1:p.Ser74Ile
NM_007294.3:c.5522G>T , LRG_292t1:c.5522G>T	NP_009225.1:p.Ser1841Ile
NM_007297.3:c.5381G>T	NP_009228.2:p.Ser1794Ile
NM_007298.3:c.2210G>T	NP_009229.2:p.Ser737Ile
NM_007299.3:c.*36G>T	NP_009230.2:n.*36G>T
NM_007300.3:c.5585G>T	NP_009231.2:p.Ser1862Ile
NR_027676.1:n.5658G>T
NM_007294.4:c.5522G>T MANE Select	NP_009225.1:p.Ser1841Ile
NM_007297.4:c.5381G>T	NP_009228.2:p.Ser1794Ile
NM_007299.4:c.*36G>T	NP_009230.2:n.*36G>T
NM_007300.4:c.5585G>T	NP_009231.2:p.Ser1862Ile
NR_027676.2:n.5699G>T