Canonical Allele Identifier: CA10592388

Gene: BRCA1

Linked Data

• dbSNP Id: rs2154011943
• MyVariant Identifiers: chr17:g.41226460G>T (hg19) ; chr17:g.43074443G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074443G>T , CM000679.2:g.43074443G>T	GRCh38
NC_000017.10:g.41226460G>T , CM000679.1:g.41226460G>T	GRCh37
NC_000017.9:g.38479986G>T	NCBI36
NG_005905.2:g.143541C>A , LRG_292:g.143541C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4560C>A	ENSP00000417241.2:p.Asn1520Lys
ENST00000470026.6:c.4563C>A	ENSP00000419274.2:p.Asn1521Lys
ENST00000473961.6:c.4437C>A	ENSP00000420201.2:p.Asn1479Lys
ENST00000476777.6:c.4557C>A	ENSP00000417554.2:p.Asn1519Lys
ENST00000477152.6:c.4485C>A	ENSP00000419988.2:p.Asn1495Lys
ENST00000478531.6:c.1251C>A	ENSP00000420412.2:p.Asn417Lys
ENST00000489037.2:c.4485C>A	ENSP00000420781.2:p.Asn1495Lys
ENST00000493919.6:c.1113C>A	ENSP00000418819.2:p.Asn371Lys
ENST00000494123.6:c.4563C>A	ENSP00000419103.2:p.Asn1521Lys
ENST00000497488.2:c.3675C>A	ENSP00000418986.2:p.Asn1225Lys
ENST00000618469.2:c.4563C>A	ENSP00000478114.2:p.Asn1521Lys
ENST00000634433.2:c.4440C>A	ENSP00000489431.2:p.Asn1480Lys
ENST00000644379.2:c.4629C>A	ENSP00000496570.2:p.Asn1543Lys
ENST00000644555.2:c.1113C>A	ENSP00000494614.2:p.Asn371Lys
ENST00000652672.2:c.4422C>A	ENSP00000498906.2:p.Asn1474Lys
ENST00000484087.6:c.1125C>A	ENSP00000419481.2:p.Asn375Lys
ENST00000700182.1:c.1170C>A	ENSP00000514849.1:p.Asn390Lys
ENST00000357654.9:c.4563C>A MANE Select	ENSP00000350283.3:p.Asn1521Lys
ENST00000471181.7:c.4626C>A	ENSP00000418960.2:p.Asn1542Lys
ENST00000644379.1:c.950C>A
ENST00000352993.7:c.1137C>A	ENSP00000312236.5:p.Asn379Lys
ENST00000357654.7:c.4563C>A	ENSP00000350283.3:p.Asn1521Lys
ENST00000461221.5:c.*4346C>A	ENSP00000418548.1:n.*4346C>A
ENST00000468300.5:c.1251C>A	ENSP00000417148.1:p.Asn417Lys
ENST00000471181.6:c.4626C>A	ENSP00000418960.2:p.Asn1542Lys
ENST00000478531.5:c.1251C>A	ENSP00000420412.1:p.Asn417Lys
ENST00000484087.5:c.876C>A	ENSP00000419481.1:p.Asn292Lys
ENST00000491747.6:c.1251C>A	ENSP00000420705.2:p.Asn417Lys
ENST00000493795.5:c.4422C>A	ENSP00000418775.1:p.Asn1474Lys
ENST00000493919.5:c.1113C>A	ENSP00000418819.1:p.Asn371Lys
ENST00000586385.5:c.5-10492C>A	ENSP00000465818.1:n.5-10492C>A
ENST00000591534.5:c.36C>A	ENSP00000467329.1:p.Asn12Lys
ENST00000591849.5:c.-98-24253C>A	ENSP00000465347.1:n.-98-24253C>A
NM_007294.3:c.4563C>A , LRG_292t1:c.4563C>A	NP_009225.1:p.Asn1521Lys
NM_007297.3:c.4422C>A	NP_009228.2:p.Asn1474Lys
NM_007298.3:c.1251C>A	NP_009229.2:p.Asn417Lys
NM_007299.3:c.1251C>A	NP_009230.2:p.Asn417Lys
NM_007300.3:c.4626C>A	NP_009231.2:p.Asn1542Lys
NR_027676.1:n.4699C>A
NM_007294.4:c.4563C>A MANE Select	NP_009225.1:p.Asn1521Lys
NM_007297.4:c.4422C>A	NP_009228.2:p.Asn1474Lys
NM_007299.4:c.1251C>A	NP_009230.2:p.Asn417Lys
NM_007300.4:c.4626C>A	NP_009231.2:p.Asn1542Lys
NR_027676.2:n.4740C>A