Canonical Allele Identifier: CA10601391

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 427022
• ClinVar RCV Id: RCV000489726 ; RCV000661001 ; RCV000775957 ; RCV001203814
• dbSNP Id: rs1085307902
• MyVariant Identifiers: chr17:g.41256204G>A (hg19) ; chr17:g.43104187G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43104187G>A , CM000679.2:g.43104187G>A	GRCh38
NC_000017.10:g.41256204G>A , CM000679.1:g.41256204G>A	GRCh37
NC_000017.9:g.38509730G>A	NCBI36
NG_005905.2:g.113797C>T , LRG_292:g.113797C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.440C>T
ENST00000461574.2:c.376C>T	ENSP00000417241.2:p.Gln126Ter
ENST00000470026.6:c.376C>T	ENSP00000419274.2:p.Gln126Ter
ENST00000473961.6:c.376C>T	ENSP00000420201.2:p.Gln126Ter
ENST00000476777.6:c.376C>T	ENSP00000417554.2:p.Gln126Ter
ENST00000477152.6:c.298C>T	ENSP00000419988.2:p.Gln100Ter
ENST00000478531.6:c.376C>T	ENSP00000420412.2:p.Gln126Ter
ENST00000489037.2:c.298C>T	ENSP00000420781.2:p.Gln100Ter
ENST00000493919.6:c.235C>T	ENSP00000418819.2:p.Gln79Ter
ENST00000494123.6:c.376C>T	ENSP00000419103.2:p.Gln126Ter
ENST00000497488.2:c.-218-9327C>T	ENSP00000418986.2:n.-218-9327C>T
ENST00000618469.2:c.376C>T	ENSP00000478114.2:p.Gln126Ter
ENST00000634433.2:c.376C>T	ENSP00000489431.2:p.Gln126Ter
ENST00000644379.2:c.376C>T	ENSP00000496570.2:p.Gln126Ter
ENST00000644555.2:c.235C>T	ENSP00000494614.2:p.Gln79Ter
ENST00000652672.2:c.235C>T	ENSP00000498906.2:p.Gln79Ter
ENST00000484087.6:c.376C>T	ENSP00000419481.2:p.Gln126Ter
ENST00000700182.1:c.298C>T	ENSP00000514849.1:p.Gln100Ter
ENST00000700183.1:c.*290C>T	ENSP00000514850.1:n.*290C>T
ENST00000700184.1:n.619C>T
ENST00000357654.9:c.376C>T MANE Select	ENSP00000350283.3:p.Gln126Ter
ENST00000471181.7:c.376C>T	ENSP00000418960.2:p.Gln126Ter
ENST00000642945.1:c.*250C>T	ENSP00000495897.1:n.*250C>T
ENST00000652672.1:c.235C>T	ENSP00000498906.1:p.Gln79Ter
ENST00000352993.7:c.376C>T	ENSP00000312236.5:p.Gln126Ter
ENST00000354071.7:c.376C>T	ENSP00000326002.7:p.Gln126Ter
ENST00000357654.7:c.376C>T	ENSP00000350283.3:p.Gln126Ter
ENST00000461221.5:c.*162C>T	ENSP00000418548.1:n.*162C>T
ENST00000461798.5:c.*162C>T	ENSP00000417988.1:n.*162C>T
ENST00000468300.5:c.376C>T	ENSP00000417148.1:p.Gln126Ter
ENST00000470026.5:c.376C>T	ENSP00000419274.1:p.Gln126Ter
ENST00000471181.6:c.376C>T	ENSP00000418960.2:p.Gln126Ter
ENST00000473961.5:c.99C>T
ENST00000476777.5:c.376C>T	ENSP00000417554.1:p.Gln126Ter
ENST00000477152.5:c.298C>T	ENSP00000419988.1:p.Gln100Ter
ENST00000478531.5:c.376C>T	ENSP00000420412.1:p.Gln126Ter
ENST00000484087.5:c.124C>T	ENSP00000419481.1:p.Gln42Ter
ENST00000487825.5:c.124C>T	ENSP00000418212.1:p.Gln42Ter
ENST00000491747.6:c.376C>T	ENSP00000420705.2:p.Gln126Ter
ENST00000492859.5:c.*312C>T	ENSP00000420253.1:n.*312C>T
ENST00000493795.5:c.235C>T	ENSP00000418775.1:p.Gln79Ter
ENST00000493919.5:c.235C>T	ENSP00000418819.1:p.Gln79Ter
ENST00000494123.5:c.376C>T	ENSP00000419103.1:p.Gln126Ter
ENST00000497488.1:c.-218-9327C>T	ENSP00000418986.1:n.-218-9327C>T
ENST00000586385.5:c.4+20995C>T	ENSP00000465818.1:n.4+20995C>T
ENST00000591534.5:c.-44+21084C>T	ENSP00000467329.1:n.-44+21084C>T
ENST00000591849.5:c.-99+21084C>T	ENSP00000465347.1:n.-99+21084C>T
ENST00000634433.1:c.376C>T	ENSP00000489431.1:p.Gln126Ter
NM_007294.3:c.376C>T , LRG_292t1:c.376C>T	NP_009225.1:p.Gln126Ter
NM_007297.3:c.235C>T	NP_009228.2:p.Gln79Ter
NM_007298.3:c.376C>T	NP_009229.2:p.Gln126Ter
NM_007299.3:c.376C>T	NP_009230.2:p.Gln126Ter
NM_007300.3:c.376C>T	NP_009231.2:p.Gln126Ter
NR_027676.1:n.515C>T
NM_007294.4:c.376C>T MANE Select	NP_009225.1:p.Gln126Ter
NM_007297.4:c.235C>T	NP_009228.2:p.Gln79Ter
NM_007299.4:c.376C>T	NP_009230.2:p.Gln126Ter
NM_007300.4:c.376C>T	NP_009231.2:p.Gln126Ter
NR_027676.2:n.556C>T