Canonical Allele Identifier: CA10592340

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1741675
• ClinVar RCV Id: RCV002342242 ; RCV003102602
• dbSNP Id: rs1597836187
• gnomAD v4: 17-43074420-A-G
• MyVariant Identifiers: chr17:g.41226437A>G (hg19) ; chr17:g.43074420A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074420A>G , CM000679.2:g.43074420A>G	GRCh38
NC_000017.10:g.41226437A>G , CM000679.1:g.41226437A>G	GRCh37
NC_000017.9:g.38479963A>G	NCBI36
NG_005905.2:g.143564T>C , LRG_292:g.143564T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4583T>C	ENSP00000417241.2:p.Ile1528Thr
ENST00000470026.6:c.4586T>C	ENSP00000419274.2:p.Ile1529Thr
ENST00000473961.6:c.4460T>C	ENSP00000420201.2:p.Ile1487Thr
ENST00000476777.6:c.4580T>C	ENSP00000417554.2:p.Ile1527Thr
ENST00000477152.6:c.4508T>C	ENSP00000419988.2:p.Ile1503Thr
ENST00000478531.6:c.1274T>C	ENSP00000420412.2:p.Ile425Thr
ENST00000489037.2:c.4508T>C	ENSP00000420781.2:p.Ile1503Thr
ENST00000493919.6:c.1136T>C	ENSP00000418819.2:p.Ile379Thr
ENST00000494123.6:c.4586T>C	ENSP00000419103.2:p.Ile1529Thr
ENST00000497488.2:c.3698T>C	ENSP00000418986.2:p.Ile1233Thr
ENST00000618469.2:c.4586T>C	ENSP00000478114.2:p.Ile1529Thr
ENST00000634433.2:c.4463T>C	ENSP00000489431.2:p.Ile1488Thr
ENST00000644379.2:c.4652T>C	ENSP00000496570.2:p.Ile1551Thr
ENST00000644555.2:c.1136T>C	ENSP00000494614.2:p.Ile379Thr
ENST00000652672.2:c.4445T>C	ENSP00000498906.2:p.Ile1482Thr
ENST00000484087.6:c.1148T>C	ENSP00000419481.2:p.Ile383Thr
ENST00000700182.1:c.1193T>C	ENSP00000514849.1:p.Ile398Thr
ENST00000357654.9:c.4586T>C MANE Select	ENSP00000350283.3:p.Ile1529Thr
ENST00000471181.7:c.4649T>C	ENSP00000418960.2:p.Ile1550Thr
ENST00000644379.1:c.973T>C
ENST00000352993.7:c.1160T>C	ENSP00000312236.5:p.Ile387Thr
ENST00000357654.7:c.4586T>C	ENSP00000350283.3:p.Ile1529Thr
ENST00000461221.5:c.*4369T>C	ENSP00000418548.1:n.*4369T>C
ENST00000468300.5:c.1274T>C	ENSP00000417148.1:p.Ile425Thr
ENST00000471181.6:c.4649T>C	ENSP00000418960.2:p.Ile1550Thr
ENST00000478531.5:c.1274T>C	ENSP00000420412.1:p.Ile425Thr
ENST00000484087.5:c.899T>C	ENSP00000419481.1:p.Ile300Thr
ENST00000491747.6:c.1274T>C	ENSP00000420705.2:p.Ile425Thr
ENST00000493795.5:c.4445T>C	ENSP00000418775.1:p.Ile1482Thr
ENST00000493919.5:c.1136T>C	ENSP00000418819.1:p.Ile379Thr
ENST00000586385.5:c.5-10469T>C	ENSP00000465818.1:n.5-10469T>C
ENST00000591534.5:c.59T>C	ENSP00000467329.1:p.Ile20Thr
ENST00000591849.5:c.-98-24230T>C	ENSP00000465347.1:n.-98-24230T>C
NM_007294.3:c.4586T>C , LRG_292t1:c.4586T>C	NP_009225.1:p.Ile1529Thr
NM_007297.3:c.4445T>C	NP_009228.2:p.Ile1482Thr
NM_007298.3:c.1274T>C	NP_009229.2:p.Ile425Thr
NM_007299.3:c.1274T>C	NP_009230.2:p.Ile425Thr
NM_007300.3:c.4649T>C	NP_009231.2:p.Ile1550Thr
NR_027676.1:n.4722T>C
NM_007294.4:c.4586T>C MANE Select	NP_009225.1:p.Ile1529Thr
NM_007297.4:c.4445T>C	NP_009228.2:p.Ile1482Thr
NM_007299.4:c.1274T>C	NP_009230.2:p.Ile425Thr
NM_007300.4:c.4649T>C	NP_009231.2:p.Ile1550Thr
NR_027676.2:n.4763T>C