Canonical Allele Identifier: CA10593055

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2748372
• ClinVar RCV Id: RCV003531133
• dbSNP Id: rs2154146497
• MyVariant Identifiers: chr17:g.41234444G>C (hg19) ; chr17:g.43082427G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082427G>C , CM000679.2:g.43082427G>C	GRCh38
NC_000017.10:g.41234444G>C , CM000679.1:g.41234444G>C	GRCh37
NC_000017.9:g.38487970G>C	NCBI36
NG_005905.2:g.135557C>G , LRG_292:g.135557C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4334C>G	ENSP00000417241.2:p.Pro1445Arg
ENST00000470026.6:c.4334C>G	ENSP00000419274.2:p.Pro1445Arg
ENST00000473961.6:c.4208C>G	ENSP00000420201.2:p.Pro1403Arg
ENST00000476777.6:c.4328C>G	ENSP00000417554.2:p.Pro1443Arg
ENST00000477152.6:c.4256C>G	ENSP00000419988.2:p.Pro1419Arg
ENST00000478531.6:c.1022C>G	ENSP00000420412.2:p.Pro341Arg
ENST00000489037.2:c.4256C>G	ENSP00000420781.2:p.Pro1419Arg
ENST00000493919.6:c.884C>G	ENSP00000418819.2:p.Pro295Arg
ENST00000494123.6:c.4334C>G	ENSP00000419103.2:p.Pro1445Arg
ENST00000497488.2:c.3446C>G	ENSP00000418986.2:p.Pro1149Arg
ENST00000618469.2:c.4334C>G	ENSP00000478114.2:p.Pro1445Arg
ENST00000634433.2:c.4211C>G	ENSP00000489431.2:p.Pro1404Arg
ENST00000644379.2:c.4334C>G	ENSP00000496570.2:p.Pro1445Arg
ENST00000644555.2:c.884C>G	ENSP00000494614.2:p.Pro295Arg
ENST00000652672.2:c.4193C>G	ENSP00000498906.2:p.Pro1398Arg
ENST00000484087.6:c.899C>G	ENSP00000419481.2:p.Pro300Arg
ENST00000700182.1:c.944C>G	ENSP00000514849.1:p.Pro315Arg
ENST00000357654.9:c.4334C>G MANE Select	ENSP00000350283.3:p.Pro1445Arg
ENST00000471181.7:c.4334C>G	ENSP00000418960.2:p.Pro1445Arg
ENST00000644379.1:c.655C>G
ENST00000352993.7:c.908C>G	ENSP00000312236.5:p.Pro303Arg
ENST00000357654.7:c.4334C>G	ENSP00000350283.3:p.Pro1445Arg
ENST00000461221.5:c.*4117C>G	ENSP00000418548.1:n.*4117C>G
ENST00000461574.1:c.628C>G
ENST00000468300.5:c.1025C>G	ENSP00000417148.1:p.Pro342Arg
ENST00000471181.6:c.4334C>G	ENSP00000418960.2:p.Pro1445Arg
ENST00000478531.5:c.1022C>G	ENSP00000420412.1:p.Pro341Arg
ENST00000484087.5:c.647C>G	ENSP00000419481.1:p.Pro216Arg
ENST00000487825.5:c.650C>G	ENSP00000418212.1:p.Pro217Arg
ENST00000491747.6:c.1025C>G	ENSP00000420705.2:p.Pro342Arg
ENST00000493795.5:c.4193C>G	ENSP00000418775.1:p.Pro1398Arg
ENST00000493919.5:c.884C>G	ENSP00000418819.1:p.Pro295Arg
ENST00000586385.5:c.5-18476C>G	ENSP00000465818.1:n.5-18476C>G
ENST00000591534.5:c.-43-7906C>G	ENSP00000467329.1:n.-43-7906C>G
ENST00000591849.5:c.-98-32237C>G	ENSP00000465347.1:n.-98-32237C>G
ENST00000621897.1:n.228C>G
NM_007294.3:c.4334C>G , LRG_292t1:c.4334C>G	NP_009225.1:p.Pro1445Arg
NM_007297.3:c.4193C>G	NP_009228.2:p.Pro1398Arg
NM_007298.3:c.1025C>G	NP_009229.2:p.Pro342Arg
NM_007299.3:c.1025C>G	NP_009230.2:p.Pro342Arg
NM_007300.3:c.4334C>G	NP_009231.2:p.Pro1445Arg
NR_027676.1:n.4470C>G
NM_007294.4:c.4334C>G MANE Select	NP_009225.1:p.Pro1445Arg
NM_007297.4:c.4193C>G	NP_009228.2:p.Pro1398Arg
NM_007299.4:c.1025C>G	NP_009230.2:p.Pro342Arg
NM_007300.4:c.4334C>G	NP_009231.2:p.Pro1445Arg
NR_027676.2:n.4511C>G