Canonical Allele Identifier: CA10591295

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 481464
• ClinVar RCV Id: RCV000637491 ; RCV000572585 ; RCV001078089
• dbSNP Id: rs1064796143
• gnomAD v4: 17-43063906-A-G
• MyVariant Identifiers: chr17:g.41215923A>G (hg19) ; chr17:g.43063906A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063906A>G , CM000679.2:g.43063906A>G	GRCh38
NC_000017.10:g.41215923A>G , CM000679.1:g.41215923A>G	GRCh37
NC_000017.9:g.38469449A>G	NCBI36
NG_005905.2:g.154078T>C , LRG_292:g.154078T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5117T>C	ENSP00000417241.2:p.Ile1706Thr
ENST00000470026.6:c.5120T>C	ENSP00000419274.2:p.Ile1707Thr
ENST00000473961.6:c.4994T>C	ENSP00000420201.2:p.Ile1665Thr
ENST00000476777.6:c.5114T>C	ENSP00000417554.2:p.Ile1705Thr
ENST00000477152.6:c.5042T>C	ENSP00000419988.2:p.Ile1681Thr
ENST00000478531.6:c.1808T>C	ENSP00000420412.2:p.Ile603Thr
ENST00000489037.2:c.5042T>C	ENSP00000420781.2:p.Ile1681Thr
ENST00000493919.6:c.1670T>C	ENSP00000418819.2:p.Ile557Thr
ENST00000494123.6:c.5120T>C	ENSP00000419103.2:p.Ile1707Thr
ENST00000497488.2:c.4232T>C	ENSP00000418986.2:p.Ile1411Thr
ENST00000618469.2:c.5120T>C	ENSP00000478114.2:p.Ile1707Thr
ENST00000634433.2:c.4997T>C	ENSP00000489431.2:p.Ile1666Thr
ENST00000644379.2:c.5186T>C	ENSP00000496570.2:p.Ile1729Thr
ENST00000644555.2:c.1670T>C	ENSP00000494614.2:p.Ile557Thr
ENST00000652672.2:c.4979T>C	ENSP00000498906.2:p.Ile1660Thr
ENST00000484087.6:c.1682T>C	ENSP00000419481.2:p.Ile561Thr
ENST00000357654.9:c.5120T>C MANE Select	ENSP00000350283.3:p.Ile1707Thr
ENST00000471181.7:c.5183T>C	ENSP00000418960.2:p.Ile1728Thr
ENST00000644379.1:c.1507T>C
ENST00000352993.7:c.1694T>C	ENSP00000312236.5:p.Ile565Thr
ENST00000357654.7:c.5120T>C	ENSP00000350283.3:p.Ile1707Thr
ENST00000461221.5:c.*4903T>C	ENSP00000418548.1:n.*4903T>C
ENST00000468300.5:c.1808T>C	ENSP00000417148.1:p.Ile603Thr
ENST00000471181.6:c.5183T>C	ENSP00000418960.2:p.Ile1728Thr
ENST00000478531.5:c.1808T>C	ENSP00000420412.1:p.Ile603Thr
ENST00000484087.5:c.1433T>C	ENSP00000419481.1:p.Ile478Thr
ENST00000491747.6:c.1808T>C	ENSP00000420705.2:p.Ile603Thr
ENST00000493795.5:c.4979T>C	ENSP00000418775.1:p.Ile1660Thr
ENST00000493919.5:c.1670T>C	ENSP00000418819.1:p.Ile557Thr
ENST00000586385.5:c.50T>C	ENSP00000465818.1:p.Ile17Thr
ENST00000591534.5:c.593T>C	ENSP00000467329.1:p.Ile198Thr
ENST00000591849.5:c.-98-13716T>C	ENSP00000465347.1:n.-98-13716T>C
NM_007294.3:c.5120T>C , LRG_292t1:c.5120T>C	NP_009225.1:p.Ile1707Thr
NM_007297.3:c.4979T>C	NP_009228.2:p.Ile1660Thr
NM_007298.3:c.1808T>C	NP_009229.2:p.Ile603Thr
NM_007299.3:c.1808T>C	NP_009230.2:p.Ile603Thr
NM_007300.3:c.5183T>C	NP_009231.2:p.Ile1728Thr
NR_027676.1:n.5256T>C
NM_007294.4:c.5120T>C MANE Select	NP_009225.1:p.Ile1707Thr
NM_007297.4:c.4979T>C	NP_009228.2:p.Ile1660Thr
NM_007299.4:c.1808T>C	NP_009230.2:p.Ile603Thr
NM_007300.4:c.5183T>C	NP_009231.2:p.Ile1728Thr
NR_027676.2:n.5297T>C