Canonical Allele Identifier: CA10593168

Gene: BRCA1

Linked Data

• dbSNP Id: rs2154153225
• MyVariant Identifiers: chr17:g.41234501G>A (hg19) ; chr17:g.43082484G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082484G>A , CM000679.2:g.43082484G>A	GRCh38
NC_000017.10:g.41234501G>A , CM000679.1:g.41234501G>A	GRCh37
NC_000017.9:g.38488027G>A	NCBI36
NG_005905.2:g.135500C>T , LRG_292:g.135500C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4277C>T	ENSP00000417241.2:p.Ser1426Phe
ENST00000470026.6:c.4277C>T	ENSP00000419274.2:p.Ser1426Phe
ENST00000473961.6:c.4151C>T	ENSP00000420201.2:p.Ser1384Phe
ENST00000476777.6:c.4271C>T	ENSP00000417554.2:p.Ser1424Phe
ENST00000477152.6:c.4199C>T	ENSP00000419988.2:p.Ser1400Phe
ENST00000478531.6:c.965C>T	ENSP00000420412.2:p.Ser322Phe
ENST00000489037.2:c.4199C>T	ENSP00000420781.2:p.Ser1400Phe
ENST00000493919.6:c.827C>T	ENSP00000418819.2:p.Ser276Phe
ENST00000494123.6:c.4277C>T	ENSP00000419103.2:p.Ser1426Phe
ENST00000497488.2:c.3389C>T	ENSP00000418986.2:p.Ser1130Phe
ENST00000618469.2:c.4277C>T	ENSP00000478114.2:p.Ser1426Phe
ENST00000634433.2:c.4154C>T	ENSP00000489431.2:p.Ser1385Phe
ENST00000644379.2:c.4277C>T	ENSP00000496570.2:p.Ser1426Phe
ENST00000644555.2:c.827C>T	ENSP00000494614.2:p.Ser276Phe
ENST00000652672.2:c.4136C>T	ENSP00000498906.2:p.Ser1379Phe
ENST00000484087.6:c.842C>T	ENSP00000419481.2:p.Ser281Phe
ENST00000700182.1:c.887C>T	ENSP00000514849.1:p.Ser296Phe
ENST00000357654.9:c.4277C>T MANE Select	ENSP00000350283.3:p.Ser1426Phe
ENST00000471181.7:c.4277C>T	ENSP00000418960.2:p.Ser1426Phe
ENST00000644379.1:c.598C>T
ENST00000352993.7:c.851C>T	ENSP00000312236.5:p.Ser284Phe
ENST00000357654.7:c.4277C>T	ENSP00000350283.3:p.Ser1426Phe
ENST00000461221.5:c.*4060C>T	ENSP00000418548.1:n.*4060C>T
ENST00000461574.1:c.571C>T
ENST00000468300.5:c.968C>T	ENSP00000417148.1:p.Ser323Phe
ENST00000471181.6:c.4277C>T	ENSP00000418960.2:p.Ser1426Phe
ENST00000478531.5:c.965C>T	ENSP00000420412.1:p.Ser322Phe
ENST00000484087.5:c.590C>T	ENSP00000419481.1:p.Ser197Phe
ENST00000487825.5:c.593C>T	ENSP00000418212.1:p.Ser198Phe
ENST00000491747.6:c.968C>T	ENSP00000420705.2:p.Ser323Phe
ENST00000493795.5:c.4136C>T	ENSP00000418775.1:p.Ser1379Phe
ENST00000493919.5:c.827C>T	ENSP00000418819.1:p.Ser276Phe
ENST00000586385.5:c.5-18533C>T	ENSP00000465818.1:n.5-18533C>T
ENST00000591534.5:c.-43-7963C>T	ENSP00000467329.1:n.-43-7963C>T
ENST00000591849.5:c.-98-32294C>T	ENSP00000465347.1:n.-98-32294C>T
ENST00000621897.1:n.171C>T
NM_007294.3:c.4277C>T , LRG_292t1:c.4277C>T	NP_009225.1:p.Ser1426Phe
NM_007297.3:c.4136C>T	NP_009228.2:p.Ser1379Phe
NM_007298.3:c.968C>T	NP_009229.2:p.Ser323Phe
NM_007299.3:c.968C>T	NP_009230.2:p.Ser323Phe
NM_007300.3:c.4277C>T	NP_009231.2:p.Ser1426Phe
NR_027676.1:n.4413C>T
NM_007294.4:c.4277C>T MANE Select	NP_009225.1:p.Ser1426Phe
NM_007297.4:c.4136C>T	NP_009228.2:p.Ser1379Phe
NM_007299.4:c.968C>T	NP_009230.2:p.Ser323Phe
NM_007300.4:c.4277C>T	NP_009231.2:p.Ser1426Phe
NR_027676.2:n.4454C>T