Canonical Allele Identifier: CA003169

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 188416
• ClinVar RCV Id: RCV000774935 ; RCV001072157 ; RCV001337422
• dbSNP Id: rs766784305
• ExAC: 17:41219657 G / A
• gnomAD v2: 17-41219657-G-A
• gnomAD v4: 17-43067640-G-A
• MyVariant Identifiers: chr17:g.41219657G>A (hg19) ; chr17:g.43067640G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067640G>A , CM000679.2:g.43067640G>A	GRCh38
NC_000017.10:g.41219657G>A , CM000679.1:g.41219657G>A	GRCh37
NC_000017.9:g.38473183G>A	NCBI36
NG_005905.2:g.150344C>T , LRG_292:g.150344C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5039C>T	ENSP00000417241.2:p.Thr1680Ile
ENST00000470026.6:c.5042C>T	ENSP00000419274.2:p.Thr1681Ile
ENST00000473961.6:c.4916C>T	ENSP00000420201.2:p.Thr1639Ile
ENST00000476777.6:c.5036C>T	ENSP00000417554.2:p.Thr1679Ile
ENST00000477152.6:c.4964C>T	ENSP00000419988.2:p.Thr1655Ile
ENST00000478531.6:c.1730C>T	ENSP00000420412.2:p.Thr577Ile
ENST00000489037.2:c.4964C>T	ENSP00000420781.2:p.Thr1655Ile
ENST00000493919.6:c.1592C>T	ENSP00000418819.2:p.Thr531Ile
ENST00000494123.6:c.5042C>T	ENSP00000419103.2:p.Thr1681Ile
ENST00000497488.2:c.4154C>T	ENSP00000418986.2:p.Thr1385Ile
ENST00000618469.2:c.5042C>T	ENSP00000478114.2:p.Thr1681Ile
ENST00000634433.2:c.4919C>T	ENSP00000489431.2:p.Thr1640Ile
ENST00000644379.2:c.5108C>T	ENSP00000496570.2:p.Thr1703Ile
ENST00000644555.2:c.1592C>T	ENSP00000494614.2:p.Thr531Ile
ENST00000652672.2:c.4901C>T	ENSP00000498906.2:p.Thr1634Ile
ENST00000484087.6:c.1604C>T	ENSP00000419481.2:p.Thr535Ile
ENST00000357654.9:c.5042C>T MANE Select	ENSP00000350283.3:p.Thr1681Ile
ENST00000471181.7:c.5105C>T	ENSP00000418960.2:p.Thr1702Ile
ENST00000644379.1:c.1429C>T
ENST00000352993.7:c.1616C>T	ENSP00000312236.5:p.Thr539Ile
ENST00000357654.7:c.5042C>T	ENSP00000350283.3:p.Thr1681Ile
ENST00000461221.5:c.*4825C>T	ENSP00000418548.1:n.*4825C>T
ENST00000468300.5:c.1730C>T	ENSP00000417148.1:p.Thr577Ile
ENST00000471181.6:c.5105C>T	ENSP00000418960.2:p.Thr1702Ile
ENST00000472490.1:n.195C>T
ENST00000478531.5:c.1730C>T	ENSP00000420412.1:p.Thr577Ile
ENST00000484087.5:c.1355C>T	ENSP00000419481.1:p.Thr452Ile
ENST00000491747.6:c.1730C>T	ENSP00000420705.2:p.Thr577Ile
ENST00000493795.5:c.4901C>T	ENSP00000418775.1:p.Thr1634Ile
ENST00000493919.5:c.1592C>T	ENSP00000418819.1:p.Thr531Ile
ENST00000586385.5:c.5-3689C>T	ENSP00000465818.1:n.5-3689C>T
ENST00000591534.5:c.515C>T	ENSP00000467329.1:p.Thr172Ile
ENST00000591849.5:c.-98-17450C>T	ENSP00000465347.1:n.-98-17450C>T
NM_007294.3:c.5042C>T , LRG_292t1:c.5042C>T	NP_009225.1:p.Thr1681Ile
NM_007297.3:c.4901C>T	NP_009228.2:p.Thr1634Ile
NM_007298.3:c.1730C>T	NP_009229.2:p.Thr577Ile
NM_007299.3:c.1730C>T	NP_009230.2:p.Thr577Ile
NM_007300.3:c.5105C>T	NP_009231.2:p.Thr1702Ile
NR_027676.1:n.5178C>T
NM_007294.4:c.5042C>T MANE Select	NP_009225.1:p.Thr1681Ile
NM_007297.4:c.4901C>T	NP_009228.2:p.Thr1634Ile
NM_007299.4:c.1730C>T	NP_009230.2:p.Thr577Ile
NM_007300.4:c.5105C>T	NP_009231.2:p.Thr1702Ile
NR_027676.2:n.5219C>T