Canonical Allele Identifier: CA10592808

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41228623T>G (hg19) ; chr17:g.43076606T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076606T>G , CM000679.2:g.43076606T>G	GRCh38
NC_000017.10:g.41228623T>G , CM000679.1:g.41228623T>G	GRCh37
NC_000017.9:g.38482149T>G	NCBI36
NG_005905.2:g.141378A>C , LRG_292:g.141378A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4363A>C	ENSP00000417241.2:p.Thr1455Pro
ENST00000470026.6:c.4366A>C	ENSP00000419274.2:p.Thr1456Pro
ENST00000473961.6:c.4240A>C	ENSP00000420201.2:p.Thr1414Pro
ENST00000476777.6:c.4360A>C	ENSP00000417554.2:p.Thr1454Pro
ENST00000477152.6:c.4288A>C	ENSP00000419988.2:p.Thr1430Pro
ENST00000478531.6:c.1054A>C	ENSP00000420412.2:p.Thr352Pro
ENST00000489037.2:c.4288A>C	ENSP00000420781.2:p.Thr1430Pro
ENST00000493919.6:c.916A>C	ENSP00000418819.2:p.Thr306Pro
ENST00000494123.6:c.4366A>C	ENSP00000419103.2:p.Thr1456Pro
ENST00000497488.2:c.3478A>C	ENSP00000418986.2:p.Thr1160Pro
ENST00000618469.2:c.4366A>C	ENSP00000478114.2:p.Thr1456Pro
ENST00000634433.2:c.4243A>C	ENSP00000489431.2:p.Thr1415Pro
ENST00000644379.2:c.4432A>C	ENSP00000496570.2:p.Thr1478Pro
ENST00000644555.2:c.916A>C	ENSP00000494614.2:p.Thr306Pro
ENST00000652672.2:c.4225A>C	ENSP00000498906.2:p.Thr1409Pro
ENST00000484087.6:c.928A>C	ENSP00000419481.2:p.Thr310Pro
ENST00000700182.1:c.973A>C	ENSP00000514849.1:p.Thr325Pro
ENST00000357654.9:c.4366A>C MANE Select	ENSP00000350283.3:p.Thr1456Pro
ENST00000471181.7:c.4429A>C	ENSP00000418960.2:p.Thr1477Pro
ENST00000644379.1:c.753A>C
ENST00000352993.7:c.940A>C	ENSP00000312236.5:p.Thr314Pro
ENST00000357654.7:c.4366A>C	ENSP00000350283.3:p.Thr1456Pro
ENST00000461221.5:c.*4149A>C	ENSP00000418548.1:n.*4149A>C
ENST00000461574.1:c.657A>C
ENST00000468300.5:c.1054A>C	ENSP00000417148.1:p.Thr352Pro
ENST00000471181.6:c.4429A>C	ENSP00000418960.2:p.Thr1477Pro
ENST00000478531.5:c.1054A>C	ENSP00000420412.1:p.Thr352Pro
ENST00000484087.5:c.679A>C	ENSP00000419481.1:p.Thr227Pro
ENST00000487825.5:c.682A>C	ENSP00000418212.1:p.Thr228Pro
ENST00000491747.6:c.1054A>C	ENSP00000420705.2:p.Thr352Pro
ENST00000493795.5:c.4225A>C	ENSP00000418775.1:p.Thr1409Pro
ENST00000493919.5:c.916A>C	ENSP00000418819.1:p.Thr306Pro
ENST00000586385.5:c.5-12655A>C	ENSP00000465818.1:n.5-12655A>C
ENST00000591534.5:c.-43-2085A>C	ENSP00000467329.1:n.-43-2085A>C
ENST00000591849.5:c.-98-26416A>C	ENSP00000465347.1:n.-98-26416A>C
ENST00000621897.1:n.257A>C
NM_007294.3:c.4366A>C , LRG_292t1:c.4366A>C	NP_009225.1:p.Thr1456Pro
NM_007297.3:c.4225A>C	NP_009228.2:p.Thr1409Pro
NM_007298.3:c.1054A>C	NP_009229.2:p.Thr352Pro
NM_007299.3:c.1054A>C	NP_009230.2:p.Thr352Pro
NM_007300.3:c.4429A>C	NP_009231.2:p.Thr1477Pro
NR_027676.1:n.4502A>C
NM_007294.4:c.4366A>C MANE Select	NP_009225.1:p.Thr1456Pro
NM_007297.4:c.4225A>C	NP_009228.2:p.Thr1409Pro
NM_007299.4:c.1054A>C	NP_009230.2:p.Thr352Pro
NM_007300.4:c.4429A>C	NP_009231.2:p.Thr1477Pro
NR_027676.2:n.4543A>C