Canonical Allele Identifier: CA10592799

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41228617G>T (hg19) ; chr17:g.43076600G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076600G>T , CM000679.2:g.43076600G>T	GRCh38
NC_000017.10:g.41228617G>T , CM000679.1:g.41228617G>T	GRCh37
NC_000017.9:g.38482143G>T	NCBI36
NG_005905.2:g.141384C>A , LRG_292:g.141384C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4369C>A	ENSP00000417241.2:p.Gln1457Lys
ENST00000470026.6:c.4372C>A	ENSP00000419274.2:p.Gln1458Lys
ENST00000473961.6:c.4246C>A	ENSP00000420201.2:p.Gln1416Lys
ENST00000476777.6:c.4366C>A	ENSP00000417554.2:p.Gln1456Lys
ENST00000477152.6:c.4294C>A	ENSP00000419988.2:p.Gln1432Lys
ENST00000478531.6:c.1060C>A	ENSP00000420412.2:p.Gln354Lys
ENST00000489037.2:c.4294C>A	ENSP00000420781.2:p.Gln1432Lys
ENST00000493919.6:c.922C>A	ENSP00000418819.2:p.Gln308Lys
ENST00000494123.6:c.4372C>A	ENSP00000419103.2:p.Gln1458Lys
ENST00000497488.2:c.3484C>A	ENSP00000418986.2:p.Gln1162Lys
ENST00000618469.2:c.4372C>A	ENSP00000478114.2:p.Gln1458Lys
ENST00000634433.2:c.4249C>A	ENSP00000489431.2:p.Gln1417Lys
ENST00000644379.2:c.4438C>A	ENSP00000496570.2:p.Gln1480Lys
ENST00000644555.2:c.922C>A	ENSP00000494614.2:p.Gln308Lys
ENST00000652672.2:c.4231C>A	ENSP00000498906.2:p.Gln1411Lys
ENST00000484087.6:c.934C>A	ENSP00000419481.2:p.Gln312Lys
ENST00000700182.1:c.979C>A	ENSP00000514849.1:p.Gln327Lys
ENST00000357654.9:c.4372C>A MANE Select	ENSP00000350283.3:p.Gln1458Lys
ENST00000471181.7:c.4435C>A	ENSP00000418960.2:p.Gln1479Lys
ENST00000644379.1:c.759C>A
ENST00000352993.7:c.946C>A	ENSP00000312236.5:p.Gln316Lys
ENST00000357654.7:c.4372C>A	ENSP00000350283.3:p.Gln1458Lys
ENST00000461221.5:c.*4155C>A	ENSP00000418548.1:n.*4155C>A
ENST00000461574.1:c.663C>A
ENST00000468300.5:c.1060C>A	ENSP00000417148.1:p.Gln354Lys
ENST00000471181.6:c.4435C>A	ENSP00000418960.2:p.Gln1479Lys
ENST00000478531.5:c.1060C>A	ENSP00000420412.1:p.Gln354Lys
ENST00000484087.5:c.685C>A	ENSP00000419481.1:p.Gln229Lys
ENST00000487825.5:c.688C>A	ENSP00000418212.1:p.Gln230Lys
ENST00000491747.6:c.1060C>A	ENSP00000420705.2:p.Gln354Lys
ENST00000493795.5:c.4231C>A	ENSP00000418775.1:p.Gln1411Lys
ENST00000493919.5:c.922C>A	ENSP00000418819.1:p.Gln308Lys
ENST00000586385.5:c.5-12649C>A	ENSP00000465818.1:n.5-12649C>A
ENST00000591534.5:c.-43-2079C>A	ENSP00000467329.1:n.-43-2079C>A
ENST00000591849.5:c.-98-26410C>A	ENSP00000465347.1:n.-98-26410C>A
ENST00000621897.1:n.263C>A
NM_007294.3:c.4372C>A , LRG_292t1:c.4372C>A	NP_009225.1:p.Gln1458Lys
NM_007297.3:c.4231C>A	NP_009228.2:p.Gln1411Lys
NM_007298.3:c.1060C>A	NP_009229.2:p.Gln354Lys
NM_007299.3:c.1060C>A	NP_009230.2:p.Gln354Lys
NM_007300.3:c.4435C>A	NP_009231.2:p.Gln1479Lys
NR_027676.1:n.4508C>A
NM_007294.4:c.4372C>A MANE Select	NP_009225.1:p.Gln1458Lys
NM_007297.4:c.4231C>A	NP_009228.2:p.Gln1411Lys
NM_007299.4:c.1060C>A	NP_009230.2:p.Gln354Lys
NM_007300.4:c.4435C>A	NP_009231.2:p.Gln1479Lys
NR_027676.2:n.4549C>A