Canonical Allele Identifier: CA10592233

Gene: BRCA1

Linked Data

• dbSNP Id: rs2153994298
• MyVariant Identifiers: chr17:g.41226383A>T (hg19) ; chr17:g.43074366A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074366A>T , CM000679.2:g.43074366A>T	GRCh38
NC_000017.10:g.41226383A>T , CM000679.1:g.41226383A>T	GRCh37
NC_000017.9:g.38479909A>T	NCBI36
NG_005905.2:g.143618T>A , LRG_292:g.143618T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4637T>A	ENSP00000417241.2:p.Leu1546Ter
ENST00000470026.6:c.4640T>A	ENSP00000419274.2:p.Leu1547Ter
ENST00000473961.6:c.4514T>A	ENSP00000420201.2:p.Leu1505Ter
ENST00000476777.6:c.4634T>A	ENSP00000417554.2:p.Leu1545Ter
ENST00000477152.6:c.4562T>A	ENSP00000419988.2:p.Leu1521Ter
ENST00000478531.6:c.1328T>A	ENSP00000420412.2:p.Leu443Ter
ENST00000489037.2:c.4562T>A	ENSP00000420781.2:p.Leu1521Ter
ENST00000493919.6:c.1190T>A	ENSP00000418819.2:p.Leu397Ter
ENST00000494123.6:c.4640T>A	ENSP00000419103.2:p.Leu1547Ter
ENST00000497488.2:c.3752T>A	ENSP00000418986.2:p.Leu1251Ter
ENST00000618469.2:c.4640T>A	ENSP00000478114.2:p.Leu1547Ter
ENST00000634433.2:c.4517T>A	ENSP00000489431.2:p.Leu1506Ter
ENST00000644379.2:c.4706T>A	ENSP00000496570.2:p.Leu1569Ter
ENST00000644555.2:c.1190T>A	ENSP00000494614.2:p.Leu397Ter
ENST00000652672.2:c.4499T>A	ENSP00000498906.2:p.Leu1500Ter
ENST00000484087.6:c.1202T>A	ENSP00000419481.2:p.Leu401Ter
ENST00000700182.1:c.1247T>A	ENSP00000514849.1:p.Leu416Ter
ENST00000357654.9:c.4640T>A MANE Select	ENSP00000350283.3:p.Leu1547Ter
ENST00000471181.7:c.4703T>A	ENSP00000418960.2:p.Leu1568Ter
ENST00000644379.1:c.1027T>A
ENST00000352993.7:c.1214T>A	ENSP00000312236.5:p.Leu405Ter
ENST00000357654.7:c.4640T>A	ENSP00000350283.3:p.Leu1547Ter
ENST00000461221.5:c.*4423T>A	ENSP00000418548.1:n.*4423T>A
ENST00000468300.5:c.1328T>A	ENSP00000417148.1:p.Leu443Ter
ENST00000471181.6:c.4703T>A	ENSP00000418960.2:p.Leu1568Ter
ENST00000478531.5:c.1328T>A	ENSP00000420412.1:p.Leu443Ter
ENST00000484087.5:c.953T>A	ENSP00000419481.1:p.Leu318Ter
ENST00000491747.6:c.1328T>A	ENSP00000420705.2:p.Leu443Ter
ENST00000493795.5:c.4499T>A	ENSP00000418775.1:p.Leu1500Ter
ENST00000493919.5:c.1190T>A	ENSP00000418819.1:p.Leu397Ter
ENST00000586385.5:c.5-10415T>A	ENSP00000465818.1:n.5-10415T>A
ENST00000591534.5:c.113T>A	ENSP00000467329.1:p.Leu38Ter
ENST00000591849.5:c.-98-24176T>A	ENSP00000465347.1:n.-98-24176T>A
NM_007294.3:c.4640T>A , LRG_292t1:c.4640T>A	NP_009225.1:p.Leu1547Ter
NM_007297.3:c.4499T>A	NP_009228.2:p.Leu1500Ter
NM_007298.3:c.1328T>A	NP_009229.2:p.Leu443Ter
NM_007299.3:c.1328T>A	NP_009230.2:p.Leu443Ter
NM_007300.3:c.4703T>A	NP_009231.2:p.Leu1568Ter
NR_027676.1:n.4776T>A
NM_007294.4:c.4640T>A MANE Select	NP_009225.1:p.Leu1547Ter
NM_007297.4:c.4499T>A	NP_009228.2:p.Leu1500Ter
NM_007299.4:c.1328T>A	NP_009230.2:p.Leu443Ter
NM_007300.4:c.4703T>A	NP_009231.2:p.Leu1568Ter
NR_027676.2:n.4817T>A