Canonical Allele Identifier: CA003696

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55613
• ClinVar RCV Id: RCV000112694 ; RCV000236784 ; RCV000583863
• dbSNP Id: rs80357368
• gnomAD v4: 17-43045748-C-T
• MyVariant Identifiers: chr17:g.41197765C>T (hg19) ; chr17:g.43045748C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5519G>A	ENSP00000417241.2:p.Ser1840Asn
ENST00000470026.6:c.5522G>A	ENSP00000419274.2:p.Ser1841Asn
ENST00000473961.6:c.5396G>A	ENSP00000420201.2:p.Ser1799Asn
ENST00000476777.6:c.5516G>A	ENSP00000417554.2:p.Ser1839Asn
ENST00000477152.6:c.5444G>A	ENSP00000419988.2:p.Ser1815Asn
ENST00000478531.6:c.2210G>A	ENSP00000420412.2:p.Ser737Asn
ENST00000489037.2:c.5444G>A	ENSP00000420781.2:p.Ser1815Asn
ENST00000493919.6:c.2072G>A	ENSP00000418819.2:p.Ser691Asn
ENST00000494123.6:c.5522G>A	ENSP00000419103.2:p.Ser1841Asn
ENST00000497488.2:c.4634G>A	ENSP00000418986.2:p.Ser1545Asn
ENST00000618469.2:c.5522G>A	ENSP00000478114.2:p.Ser1841Asn
ENST00000634433.2:c.5399G>A	ENSP00000489431.2:p.Ser1800Asn
ENST00000644379.2:c.5588G>A	ENSP00000496570.2:p.Ser1863Asn
ENST00000644555.2:c.2072G>A	ENSP00000494614.2:p.Ser691Asn
ENST00000652672.2:c.5381G>A	ENSP00000498906.2:p.Ser1794Asn
ENST00000484087.6:c.2084G>A	ENSP00000419481.2:p.Ser695Asn
ENST00000700081.1:n.1405G>A
ENST00000700082.1:n.886G>A
ENST00000357654.9:c.5522G>A MANE Select	ENSP00000350283.3:p.Ser1841Asn
ENST00000471181.7:c.5585G>A	ENSP00000418960.2:p.Ser1862Asn
ENST00000644379.1:c.1909G>A
ENST00000352993.7:c.2096G>A	ENSP00000312236.5:p.Ser699Asn
ENST00000357654.7:c.5522G>A	ENSP00000350283.3:p.Ser1841Asn
ENST00000461221.5:c.*5305G>A	ENSP00000418548.1:n.*5305G>A
ENST00000468300.5:c.*36G>A	ENSP00000417148.1:n.*36G>A
ENST00000471181.6:c.5585G>A	ENSP00000418960.2:p.Ser1862Asn
ENST00000491747.6:c.2210G>A	ENSP00000420705.2:p.Ser737Asn
ENST00000493795.5:c.5381G>A	ENSP00000418775.1:p.Ser1794Asn
ENST00000586385.5:c.452G>A	ENSP00000465818.1:p.Ser151Asn
ENST00000591534.5:c.995G>A	ENSP00000467329.1:p.Ser332Asn
ENST00000591849.5:c.221G>A	ENSP00000465347.1:p.Ser74Asn
NM_007294.3:c.5522G>A , LRG_292t1:c.5522G>A	NP_009225.1:p.Ser1841Asn
NM_007297.3:c.5381G>A	NP_009228.2:p.Ser1794Asn
NM_007298.3:c.2210G>A	NP_009229.2:p.Ser737Asn
NM_007299.3:c.*36G>A	NP_009230.2:n.*36G>A
NM_007300.3:c.5585G>A	NP_009231.2:p.Ser1862Asn
NR_027676.1:n.5658G>A
NM_007294.4:c.5522G>A MANE Select	NP_009225.1:p.Ser1841Asn
NM_007297.4:c.5381G>A	NP_009228.2:p.Ser1794Asn
NM_007299.4:c.*36G>A	NP_009230.2:n.*36G>A
NM_007300.4:c.5585G>A	NP_009231.2:p.Ser1862Asn
NR_027676.2:n.5699G>A