Canonical Allele Identifier: CA500143582

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 514634
• ClinVar RCV Id: RCV000605458 ; RCV001076791
• dbSNP Id: rs1555575689
• gnomAD v4: 17-43051076-G-C
• MyVariant Identifiers: chr17:g.41203093G>C (hg19) ; chr17:g.43051076G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051076G>C , CM000679.2:g.43051076G>C	GRCh38
NC_000017.10:g.41203093G>C , CM000679.1:g.41203093G>C	GRCh37
NC_000017.9:g.38456619G>C	NCBI36
NG_005905.2:g.166908C>G , LRG_292:g.166908C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5316C>G	ENSP00000417241.2:p.Thr1772=
ENST00000470026.6:c.5319C>G	ENSP00000419274.2:p.Thr1773=
ENST00000473961.6:c.5193C>G	ENSP00000420201.2:p.Thr1731=
ENST00000476777.6:c.5313C>G	ENSP00000417554.2:p.Thr1771=
ENST00000477152.6:c.5241C>G	ENSP00000419988.2:p.Thr1747=
ENST00000478531.6:c.2007C>G	ENSP00000420412.2:p.Thr669=
ENST00000489037.2:c.5241C>G	ENSP00000420781.2:p.Thr1747=
ENST00000493919.6:c.1869C>G	ENSP00000418819.2:p.Thr623=
ENST00000494123.6:c.5319C>G	ENSP00000419103.2:p.Thr1773=
ENST00000497488.2:c.4431C>G	ENSP00000418986.2:p.Thr1477=
ENST00000618469.2:c.5319C>G	ENSP00000478114.2:p.Thr1773=
ENST00000634433.2:c.5196C>G	ENSP00000489431.2:p.Thr1732=
ENST00000644379.2:c.5385C>G	ENSP00000496570.2:p.Thr1795=
ENST00000644555.2:c.1869C>G	ENSP00000494614.2:p.Thr623=
ENST00000652672.2:c.5178C>G	ENSP00000498906.2:p.Thr1726=
ENST00000484087.6:c.1881C>G	ENSP00000419481.2:p.Thr627=
ENST00000357654.9:c.5319C>G MANE Select	ENSP00000350283.3:p.Thr1773=
ENST00000471181.7:c.5382C>G	ENSP00000418960.2:p.Thr1794=
ENST00000644379.1:c.1706C>G
ENST00000352993.7:c.1893C>G	ENSP00000312236.5:p.Thr631=
ENST00000357654.7:c.5319C>G	ENSP00000350283.3:p.Thr1773=
ENST00000461221.5:c.*5102C>G	ENSP00000418548.1:n.*5102C>G
ENST00000468300.5:c.2007C>G	ENSP00000417148.1:p.Thr669=
ENST00000471181.6:c.5382C>G	ENSP00000418960.2:p.Thr1794=
ENST00000491747.6:c.2007C>G	ENSP00000420705.2:p.Thr669=
ENST00000493795.5:c.5178C>G	ENSP00000418775.1:p.Thr1726=
ENST00000586385.5:c.249C>G	ENSP00000465818.1:p.Thr83=
ENST00000591534.5:c.792C>G	ENSP00000467329.1:p.Thr264=
ENST00000591849.5:c.-98-886C>G	ENSP00000465347.1:n.-98-886C>G
NM_007294.3:c.5319C>G , LRG_292t1:c.5319C>G	NP_009225.1:p.Thr1773=
NM_007297.3:c.5178C>G	NP_009228.2:p.Thr1726=
NM_007298.3:c.2007C>G	NP_009229.2:p.Thr669=
NM_007299.3:c.2007C>G	NP_009230.2:p.Thr669=
NM_007300.3:c.5382C>G	NP_009231.2:p.Thr1794=
NR_027676.1:n.5455C>G
NM_007294.4:c.5319C>G MANE Select	NP_009225.1:p.Thr1773=
NM_007297.4:c.5178C>G	NP_009228.2:p.Thr1726=
NM_007299.4:c.2007C>G	NP_009230.2:p.Thr669=
NM_007300.4:c.5382C>G	NP_009231.2:p.Thr1794=
NR_027676.2:n.5496C>G