Canonical Allele Identifier: CA10590903

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051071A>G , CM000679.2:g.43051071A>G	GRCh38
NC_000017.10:g.41203088A>G , CM000679.1:g.41203088A>G	GRCh37
NC_000017.9:g.38456614A>G	NCBI36
NG_005905.2:g.166913T>C , LRG_292:g.166913T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5321T>C	ENSP00000417241.2:p.Met1774Thr
ENST00000470026.6:c.5324T>C	ENSP00000419274.2:p.Met1775Thr
ENST00000473961.6:c.5198T>C	ENSP00000420201.2:p.Met1733Thr
ENST00000476777.6:c.5318T>C	ENSP00000417554.2:p.Met1773Thr
ENST00000477152.6:c.5246T>C	ENSP00000419988.2:p.Met1749Thr
ENST00000478531.6:c.2012T>C	ENSP00000420412.2:p.Met671Thr
ENST00000489037.2:c.5246T>C	ENSP00000420781.2:p.Met1749Thr
ENST00000493919.6:c.1874T>C	ENSP00000418819.2:p.Met625Thr
ENST00000494123.6:c.5324T>C	ENSP00000419103.2:p.Met1775Thr
ENST00000497488.2:c.4436T>C	ENSP00000418986.2:p.Met1479Thr
ENST00000618469.2:c.5324T>C	ENSP00000478114.2:p.Met1775Thr
ENST00000634433.2:c.5201T>C	ENSP00000489431.2:p.Met1734Thr
ENST00000644379.2:c.5390T>C	ENSP00000496570.2:p.Met1797Thr
ENST00000644555.2:c.1874T>C	ENSP00000494614.2:p.Met625Thr
ENST00000652672.2:c.5183T>C	ENSP00000498906.2:p.Met1728Thr
ENST00000484087.6:c.1886T>C	ENSP00000419481.2:p.Met629Thr
ENST00000357654.9:c.5324T>C MANE Select	ENSP00000350283.3:p.Met1775Thr
ENST00000471181.7:c.5387T>C	ENSP00000418960.2:p.Met1796Thr
ENST00000644379.1:c.1711T>C
ENST00000352993.7:c.1898T>C	ENSP00000312236.5:p.Met633Thr
ENST00000357654.7:c.5324T>C	ENSP00000350283.3:p.Met1775Thr
ENST00000461221.5:c.*5107T>C	ENSP00000418548.1:n.*5107T>C
ENST00000468300.5:c.2012T>C	ENSP00000417148.1:p.Met671Thr
ENST00000471181.6:c.5387T>C	ENSP00000418960.2:p.Met1796Thr
ENST00000491747.6:c.2012T>C	ENSP00000420705.2:p.Met671Thr
ENST00000493795.5:c.5183T>C	ENSP00000418775.1:p.Met1728Thr
ENST00000586385.5:c.254T>C	ENSP00000465818.1:p.Met85Thr
ENST00000591534.5:c.797T>C	ENSP00000467329.1:p.Met266Thr
ENST00000591849.5:c.-98-881T>C	ENSP00000465347.1:n.-98-881T>C
NM_007294.3:c.5324T>C , LRG_292t1:c.5324T>C	NP_009225.1:p.Met1775Thr
NM_007297.3:c.5183T>C	NP_009228.2:p.Met1728Thr
NM_007298.3:c.2012T>C	NP_009229.2:p.Met671Thr
NM_007299.3:c.2012T>C	NP_009230.2:p.Met671Thr
NM_007300.3:c.5387T>C	NP_009231.2:p.Met1796Thr
NR_027676.1:n.5460T>C
NM_007294.4:c.5324T>C MANE Select	NP_009225.1:p.Met1775Thr
NM_007297.4:c.5183T>C	NP_009228.2:p.Met1728Thr
NM_007299.4:c.2012T>C	NP_009230.2:p.Met671Thr
NM_007300.4:c.5387T>C	NP_009231.2:p.Met1796Thr
NR_027676.2:n.5501T>C