Canonical Allele Identifier: CA10591454

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865552
• ClinVar RCV Id: RCV001072992
• dbSNP Id: rs2052174148
• MyVariant Identifiers: chr17:g.41219667T>G (hg19) ; chr17:g.43067650T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067650T>G , CM000679.2:g.43067650T>G	GRCh38
NC_000017.10:g.41219667T>G , CM000679.1:g.41219667T>G	GRCh37
NC_000017.9:g.38473193T>G	NCBI36
NG_005905.2:g.150334A>C , LRG_292:g.150334A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5029A>C	ENSP00000417241.2:p.Asn1677His
ENST00000470026.6:c.5032A>C	ENSP00000419274.2:p.Asn1678His
ENST00000473961.6:c.4906A>C	ENSP00000420201.2:p.Asn1636His
ENST00000476777.6:c.5026A>C	ENSP00000417554.2:p.Asn1676His
ENST00000477152.6:c.4954A>C	ENSP00000419988.2:p.Asn1652His
ENST00000478531.6:c.1720A>C	ENSP00000420412.2:p.Asn574His
ENST00000489037.2:c.4954A>C	ENSP00000420781.2:p.Asn1652His
ENST00000493919.6:c.1582A>C	ENSP00000418819.2:p.Asn528His
ENST00000494123.6:c.5032A>C	ENSP00000419103.2:p.Asn1678His
ENST00000497488.2:c.4144A>C	ENSP00000418986.2:p.Asn1382His
ENST00000618469.2:c.5032A>C	ENSP00000478114.2:p.Asn1678His
ENST00000634433.2:c.4909A>C	ENSP00000489431.2:p.Asn1637His
ENST00000644379.2:c.5098A>C	ENSP00000496570.2:p.Asn1700His
ENST00000644555.2:c.1582A>C	ENSP00000494614.2:p.Asn528His
ENST00000652672.2:c.4891A>C	ENSP00000498906.2:p.Asn1631His
ENST00000484087.6:c.1594A>C	ENSP00000419481.2:p.Asn532His
ENST00000357654.9:c.5032A>C MANE Select	ENSP00000350283.3:p.Asn1678His
ENST00000471181.7:c.5095A>C	ENSP00000418960.2:p.Asn1699His
ENST00000644379.1:c.1419A>C
ENST00000352993.7:c.1606A>C	ENSP00000312236.5:p.Asn536His
ENST00000357654.7:c.5032A>C	ENSP00000350283.3:p.Asn1678His
ENST00000461221.5:c.*4815A>C	ENSP00000418548.1:n.*4815A>C
ENST00000468300.5:c.1720A>C	ENSP00000417148.1:p.Asn574His
ENST00000471181.6:c.5095A>C	ENSP00000418960.2:p.Asn1699His
ENST00000472490.1:n.185A>C
ENST00000478531.5:c.1720A>C	ENSP00000420412.1:p.Asn574His
ENST00000484087.5:c.1345A>C	ENSP00000419481.1:p.Asn449His
ENST00000491747.6:c.1720A>C	ENSP00000420705.2:p.Asn574His
ENST00000493795.5:c.4891A>C	ENSP00000418775.1:p.Asn1631His
ENST00000493919.5:c.1582A>C	ENSP00000418819.1:p.Asn528His
ENST00000586385.5:c.5-3699A>C	ENSP00000465818.1:n.5-3699A>C
ENST00000591534.5:c.505A>C	ENSP00000467329.1:p.Asn169His
ENST00000591849.5:c.-98-17460A>C	ENSP00000465347.1:n.-98-17460A>C
NM_007294.3:c.5032A>C , LRG_292t1:c.5032A>C	NP_009225.1:p.Asn1678His
NM_007297.3:c.4891A>C	NP_009228.2:p.Asn1631His
NM_007298.3:c.1720A>C	NP_009229.2:p.Asn574His
NM_007299.3:c.1720A>C	NP_009230.2:p.Asn574His
NM_007300.3:c.5095A>C	NP_009231.2:p.Asn1699His
NR_027676.1:n.5168A>C
NM_007294.4:c.5032A>C MANE Select	NP_009225.1:p.Asn1678His
NM_007297.4:c.4891A>C	NP_009228.2:p.Asn1631His
NM_007299.4:c.1720A>C	NP_009230.2:p.Asn574His
NM_007300.4:c.5095A>C	NP_009231.2:p.Asn1699His
NR_027676.2:n.5209A>C