Canonical Allele Identifier: CA003599

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55580
• ClinVar RCV Id: RCV000048996 ; RCV000112656 ; RCV000162887 ; RCV000167788 ; RCV000414344 ; RCV000785212 ; RCV001554250 ; RCV000735516 ; RCV000763398 ; RCV001353974
• dbSNP Id: rs80356962
• gnomAD v3: 17-43047666-C-T
• gnomAD v4: 17-43047666-C-T
• MyVariant Identifiers: chr17:g.41199683C>T (hg19) ; chr17:g.43047666C>T (hg38)
• PubMed: PMID:8968102 ; PMID:12204006 ; PMID:15365993 ; PMID:16267036 ; PMID:19996028 ; PMID:20104584 ; PMID:22713736 ; PMID:22798144 ; PMID:23469205 ; PMID:24131973 ; PMID:24884479 ; PMID:25400221 ; PMID:26681312

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047666C>T , CM000679.2:g.43047666C>T	GRCh38
NC_000017.10:g.41199683C>T , CM000679.1:g.41199683C>T	GRCh37
NC_000017.9:g.38453209C>T	NCBI36
NG_005905.2:g.170318G>A , LRG_292:g.170318G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5441G>A	ENSP00000417241.2:p.Trp1814Ter
ENST00000470026.6:c.5444G>A	ENSP00000419274.2:p.Trp1815Ter
ENST00000473961.6:c.5318G>A	ENSP00000420201.2:p.Trp1773Ter
ENST00000476777.6:c.5438G>A	ENSP00000417554.2:p.Trp1813Ter
ENST00000477152.6:c.5366G>A	ENSP00000419988.2:p.Trp1789Ter
ENST00000478531.6:c.2132G>A	ENSP00000420412.2:p.Trp711Ter
ENST00000489037.2:c.5366G>A	ENSP00000420781.2:p.Trp1789Ter
ENST00000493919.6:c.1994G>A	ENSP00000418819.2:p.Trp665Ter
ENST00000494123.6:c.5444G>A	ENSP00000419103.2:p.Trp1815Ter
ENST00000497488.2:c.4556G>A	ENSP00000418986.2:p.Trp1519Ter
ENST00000618469.2:c.5444G>A	ENSP00000478114.2:p.Trp1815Ter
ENST00000634433.2:c.5321G>A	ENSP00000489431.2:p.Trp1774Ter
ENST00000644379.2:c.5510G>A	ENSP00000496570.2:p.Trp1837Ter
ENST00000644555.2:c.1994G>A	ENSP00000494614.2:p.Trp665Ter
ENST00000652672.2:c.5303G>A	ENSP00000498906.2:p.Trp1768Ter
ENST00000484087.6:c.2006G>A	ENSP00000419481.2:p.Trp669Ter
ENST00000700081.1:n.1327G>A
ENST00000700082.1:n.808G>A
ENST00000357654.9:c.5444G>A MANE Select	ENSP00000350283.3:p.Trp1815Ter
ENST00000471181.7:c.5507G>A	ENSP00000418960.2:p.Trp1836Ter
ENST00000644379.1:c.1831G>A
ENST00000352993.7:c.2018G>A	ENSP00000312236.5:p.Trp673Ter
ENST00000357654.7:c.5444G>A	ENSP00000350283.3:p.Trp1815Ter
ENST00000461221.5:c.*5227G>A	ENSP00000418548.1:n.*5227G>A
ENST00000468300.5:c.2058G>A	ENSP00000417148.1:p.Leu686=
ENST00000471181.6:c.5507G>A	ENSP00000418960.2:p.Trp1836Ter
ENST00000491747.6:c.2132G>A	ENSP00000420705.2:p.Trp711Ter
ENST00000493795.5:c.5303G>A	ENSP00000418775.1:p.Trp1768Ter
ENST00000586385.5:c.374G>A	ENSP00000465818.1:p.Trp125Ter
ENST00000591534.5:c.917G>A	ENSP00000467329.1:p.Trp306Ter
ENST00000591849.5:c.143G>A	ENSP00000465347.1:p.Trp48Ter
NM_007294.3:c.5444G>A , LRG_292t1:c.5444G>A	NP_009225.1:p.Trp1815Ter
NM_007297.3:c.5303G>A	NP_009228.2:p.Trp1768Ter
NM_007298.3:c.2132G>A	NP_009229.2:p.Trp711Ter
NM_007299.3:c.2058G>A	NP_009230.2:p.Leu686=
NM_007300.3:c.5507G>A	NP_009231.2:p.Trp1836Ter
NR_027676.1:n.5580G>A
NM_007294.4:c.5444G>A MANE Select	NP_009225.1:p.Trp1815Ter
NM_007297.4:c.5303G>A	NP_009228.2:p.Trp1768Ter
NM_007299.4:c.2058G>A	NP_009230.2:p.Leu686=
NM_007300.4:c.5507G>A	NP_009231.2:p.Trp1836Ter
NR_027676.2:n.5621G>A