Canonical Allele Identifier: CA10592758

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 531324
• ClinVar RCV Id: RCV000637564
• dbSNP Id: rs1259139517
• MyVariant Identifiers: chr17:g.41228599G>T (hg19) ; chr17:g.43076582G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076582G>T , CM000679.2:g.43076582G>T	GRCh38
NC_000017.10:g.41228599G>T , CM000679.1:g.41228599G>T	GRCh37
NC_000017.9:g.38482125G>T	NCBI36
NG_005905.2:g.141402C>A , LRG_292:g.141402C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4387C>A	ENSP00000417241.2:p.Pro1463Thr
ENST00000470026.6:c.4390C>A	ENSP00000419274.2:p.Pro1464Thr
ENST00000473961.6:c.4264C>A	ENSP00000420201.2:p.Pro1422Thr
ENST00000476777.6:c.4384C>A	ENSP00000417554.2:p.Pro1462Thr
ENST00000477152.6:c.4312C>A	ENSP00000419988.2:p.Pro1438Thr
ENST00000478531.6:c.1078C>A	ENSP00000420412.2:p.Pro360Thr
ENST00000489037.2:c.4312C>A	ENSP00000420781.2:p.Pro1438Thr
ENST00000493919.6:c.940C>A	ENSP00000418819.2:p.Pro314Thr
ENST00000494123.6:c.4390C>A	ENSP00000419103.2:p.Pro1464Thr
ENST00000497488.2:c.3502C>A	ENSP00000418986.2:p.Pro1168Thr
ENST00000618469.2:c.4390C>A	ENSP00000478114.2:p.Pro1464Thr
ENST00000634433.2:c.4267C>A	ENSP00000489431.2:p.Pro1423Thr
ENST00000644379.2:c.4456C>A	ENSP00000496570.2:p.Pro1486Thr
ENST00000644555.2:c.940C>A	ENSP00000494614.2:p.Pro314Thr
ENST00000652672.2:c.4249C>A	ENSP00000498906.2:p.Pro1417Thr
ENST00000484087.6:c.952C>A	ENSP00000419481.2:p.Pro318Thr
ENST00000700182.1:c.997C>A	ENSP00000514849.1:p.Pro333Thr
ENST00000357654.9:c.4390C>A MANE Select	ENSP00000350283.3:p.Pro1464Thr
ENST00000471181.7:c.4453C>A	ENSP00000418960.2:p.Pro1485Thr
ENST00000644379.1:c.777C>A
ENST00000352993.7:c.964C>A	ENSP00000312236.5:p.Pro322Thr
ENST00000357654.7:c.4390C>A	ENSP00000350283.3:p.Pro1464Thr
ENST00000461221.5:c.*4173C>A	ENSP00000418548.1:n.*4173C>A
ENST00000461574.1:c.681C>A
ENST00000468300.5:c.1078C>A	ENSP00000417148.1:p.Pro360Thr
ENST00000471181.6:c.4453C>A	ENSP00000418960.2:p.Pro1485Thr
ENST00000478531.5:c.1078C>A	ENSP00000420412.1:p.Pro360Thr
ENST00000484087.5:c.703C>A	ENSP00000419481.1:p.Pro235Thr
ENST00000487825.5:c.706C>A	ENSP00000418212.1:p.Pro236Thr
ENST00000491747.6:c.1078C>A	ENSP00000420705.2:p.Pro360Thr
ENST00000493795.5:c.4249C>A	ENSP00000418775.1:p.Pro1417Thr
ENST00000493919.5:c.940C>A	ENSP00000418819.1:p.Pro314Thr
ENST00000586385.5:c.5-12631C>A	ENSP00000465818.1:n.5-12631C>A
ENST00000591534.5:c.-43-2061C>A	ENSP00000467329.1:n.-43-2061C>A
ENST00000591849.5:c.-98-26392C>A	ENSP00000465347.1:n.-98-26392C>A
ENST00000621897.1:n.281C>A
NM_007294.3:c.4390C>A , LRG_292t1:c.4390C>A	NP_009225.1:p.Pro1464Thr
NM_007297.3:c.4249C>A	NP_009228.2:p.Pro1417Thr
NM_007298.3:c.1078C>A	NP_009229.2:p.Pro360Thr
NM_007299.3:c.1078C>A	NP_009230.2:p.Pro360Thr
NM_007300.3:c.4453C>A	NP_009231.2:p.Pro1485Thr
NR_027676.1:n.4526C>A
NM_007294.4:c.4390C>A MANE Select	NP_009225.1:p.Pro1464Thr
NM_007297.4:c.4249C>A	NP_009228.2:p.Pro1417Thr
NM_007299.4:c.1078C>A	NP_009230.2:p.Pro360Thr
NM_007300.4:c.4453C>A	NP_009231.2:p.Pro1485Thr
NR_027676.2:n.4567C>A