Canonical Allele Identifier: CA10591854

Gene: BRCA1

Linked Data

• dbSNP Id: rs786202064
• MyVariant Identifiers: chr17:g.41223097G>T (hg19) ; chr17:g.43071080G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071080G>T , CM000679.2:g.43071080G>T	GRCh38
NC_000017.10:g.41223097G>T , CM000679.1:g.41223097G>T	GRCh37
NC_000017.9:g.38476623G>T	NCBI36
NG_005905.2:g.146904C>A , LRG_292:g.146904C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4831C>A	ENSP00000417241.2:p.Gln1611Lys
ENST00000470026.6:c.4834C>A	ENSP00000419274.2:p.Gln1612Lys
ENST00000473961.6:c.4708C>A	ENSP00000420201.2:p.Gln1570Lys
ENST00000476777.6:c.4828C>A	ENSP00000417554.2:p.Gln1610Lys
ENST00000477152.6:c.4756C>A	ENSP00000419988.2:p.Gln1586Lys
ENST00000478531.6:c.1522C>A	ENSP00000420412.2:p.Gln508Lys
ENST00000489037.2:c.4756C>A	ENSP00000420781.2:p.Gln1586Lys
ENST00000493919.6:c.1384C>A	ENSP00000418819.2:p.Gln462Lys
ENST00000494123.6:c.4834C>A	ENSP00000419103.2:p.Gln1612Lys
ENST00000497488.2:c.3946C>A	ENSP00000418986.2:p.Gln1316Lys
ENST00000618469.2:c.4834C>A	ENSP00000478114.2:p.Gln1612Lys
ENST00000634433.2:c.4711C>A	ENSP00000489431.2:p.Gln1571Lys
ENST00000644379.2:c.4900C>A	ENSP00000496570.2:p.Gln1634Lys
ENST00000644555.2:c.1384C>A	ENSP00000494614.2:p.Gln462Lys
ENST00000652672.2:c.4693C>A	ENSP00000498906.2:p.Gln1565Lys
ENST00000484087.6:c.1396C>A	ENSP00000419481.2:p.Gln466Lys
ENST00000700182.1:c.1441C>A	ENSP00000514849.1:p.Gln481Lys
ENST00000357654.9:c.4834C>A MANE Select	ENSP00000350283.3:p.Gln1612Lys
ENST00000471181.7:c.4897C>A	ENSP00000418960.2:p.Gln1633Lys
ENST00000644379.1:c.1221C>A
ENST00000352993.7:c.1408C>A	ENSP00000312236.5:p.Gln470Lys
ENST00000357654.7:c.4834C>A	ENSP00000350283.3:p.Gln1612Lys
ENST00000461221.5:c.*4617C>A	ENSP00000418548.1:n.*4617C>A
ENST00000468300.5:c.1522C>A	ENSP00000417148.1:p.Gln508Lys
ENST00000471181.6:c.4897C>A	ENSP00000418960.2:p.Gln1633Lys
ENST00000478531.5:c.1522C>A	ENSP00000420412.1:p.Gln508Lys
ENST00000484087.5:c.1147C>A	ENSP00000419481.1:p.Gln383Lys
ENST00000491747.6:c.1522C>A	ENSP00000420705.2:p.Gln508Lys
ENST00000493795.5:c.4693C>A	ENSP00000418775.1:p.Gln1565Lys
ENST00000493919.5:c.1384C>A	ENSP00000418819.1:p.Gln462Lys
ENST00000586385.5:c.5-7129C>A	ENSP00000465818.1:n.5-7129C>A
ENST00000591534.5:c.307C>A	ENSP00000467329.1:p.Gln103Lys
ENST00000591849.5:c.-98-20890C>A	ENSP00000465347.1:n.-98-20890C>A
NM_007294.3:c.4834C>A , LRG_292t1:c.4834C>A	NP_009225.1:p.Gln1612Lys
NM_007297.3:c.4693C>A	NP_009228.2:p.Gln1565Lys
NM_007298.3:c.1522C>A	NP_009229.2:p.Gln508Lys
NM_007299.3:c.1522C>A	NP_009230.2:p.Gln508Lys
NM_007300.3:c.4897C>A	NP_009231.2:p.Gln1633Lys
NR_027676.1:n.4970C>A
NM_007294.4:c.4834C>A MANE Select	NP_009225.1:p.Gln1612Lys
NM_007297.4:c.4693C>A	NP_009228.2:p.Gln1565Lys
NM_007299.4:c.1522C>A	NP_009230.2:p.Gln508Lys
NM_007300.4:c.4897C>A	NP_009231.2:p.Gln1633Lys
NR_027676.2:n.5011C>A