Canonical Allele Identifier: CA003478

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 17694
• ClinVar RCV Id: RCV000019264 ; RCV000048931 ; RCV000131375 ; RCV000167787 ; RCV001170589 ; RCV004554608
• dbSNP Id: rs41293463
• gnomAD v2: 17-41203088-A-C
• gnomAD v3: 17-43051071-A-C
• gnomAD v4: 17-43051071-A-C
• MyVariant Identifiers: chr17:g.41203088A>C (hg19) ; chr17:g.43051071A>C (hg38)
• PubMed: PMID:7545954 ; PMID:7939630 ; PMID:8942979 ; PMID:11573086 ; PMID:12400015 ; PMID:12427738 ; PMID:14576432 ; PMID:15125843 ; PMID:15133502 ; PMID:15172985 ; PMID:15235020 ; PMID:15689452 ; PMID:16101277 ; PMID:16267036 ; PMID:16452482 ; PMID:16786532 ; PMID:17005433 ; PMID:17308087 ; PMID:17493881 ; PMID:17924331 ; PMID:18285836 ; PMID:19491284 ; PMID:19493677 ; PMID:20104584 ; PMID:20215423 ; PMID:20516115 ; PMID:21520273 ; PMID:21666281 ; PMID:21990134 ; PMID:22010008 ; PMID:22034289 ; PMID:22753008 ; PMID:23161852 ; PMID:24240112 ; PMID:25085752 ; PMID:25782689 ; PMID:26287763 ; PMID:26295337 ; PMID:27272900 ; PMID:27495310

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051071A>C , CM000679.2:g.43051071A>C	GRCh38
NC_000017.10:g.41203088A>C , CM000679.1:g.41203088A>C	GRCh37
NC_000017.9:g.38456614A>C	NCBI36
NG_005905.2:g.166913T>G , LRG_292:g.166913T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5321T>G	ENSP00000417241.2:p.Met1774Arg
ENST00000470026.6:c.5324T>G	ENSP00000419274.2:p.Met1775Arg
ENST00000473961.6:c.5198T>G	ENSP00000420201.2:p.Met1733Arg
ENST00000476777.6:c.5318T>G	ENSP00000417554.2:p.Met1773Arg
ENST00000477152.6:c.5246T>G	ENSP00000419988.2:p.Met1749Arg
ENST00000478531.6:c.2012T>G	ENSP00000420412.2:p.Met671Arg
ENST00000489037.2:c.5246T>G	ENSP00000420781.2:p.Met1749Arg
ENST00000493919.6:c.1874T>G	ENSP00000418819.2:p.Met625Arg
ENST00000494123.6:c.5324T>G	ENSP00000419103.2:p.Met1775Arg
ENST00000497488.2:c.4436T>G	ENSP00000418986.2:p.Met1479Arg
ENST00000618469.2:c.5324T>G	ENSP00000478114.2:p.Met1775Arg
ENST00000634433.2:c.5201T>G	ENSP00000489431.2:p.Met1734Arg
ENST00000644379.2:c.5390T>G	ENSP00000496570.2:p.Met1797Arg
ENST00000644555.2:c.1874T>G	ENSP00000494614.2:p.Met625Arg
ENST00000652672.2:c.5183T>G	ENSP00000498906.2:p.Met1728Arg
ENST00000484087.6:c.1886T>G	ENSP00000419481.2:p.Met629Arg
ENST00000357654.9:c.5324T>G MANE Select	ENSP00000350283.3:p.Met1775Arg
ENST00000471181.7:c.5387T>G	ENSP00000418960.2:p.Met1796Arg
ENST00000644379.1:c.1711T>G
ENST00000352993.7:c.1898T>G	ENSP00000312236.5:p.Met633Arg
ENST00000357654.7:c.5324T>G	ENSP00000350283.3:p.Met1775Arg
ENST00000461221.5:c.*5107T>G	ENSP00000418548.1:n.*5107T>G
ENST00000468300.5:c.2012T>G	ENSP00000417148.1:p.Met671Arg
ENST00000471181.6:c.5387T>G	ENSP00000418960.2:p.Met1796Arg
ENST00000491747.6:c.2012T>G	ENSP00000420705.2:p.Met671Arg
ENST00000493795.5:c.5183T>G	ENSP00000418775.1:p.Met1728Arg
ENST00000586385.5:c.254T>G	ENSP00000465818.1:p.Met85Arg
ENST00000591534.5:c.797T>G	ENSP00000467329.1:p.Met266Arg
ENST00000591849.5:c.-98-881T>G	ENSP00000465347.1:n.-98-881T>G
NM_007294.3:c.5324T>G , LRG_292t1:c.5324T>G	NP_009225.1:p.Met1775Arg
NM_007297.3:c.5183T>G	NP_009228.2:p.Met1728Arg
NM_007298.3:c.2012T>G	NP_009229.2:p.Met671Arg
NM_007299.3:c.2012T>G	NP_009230.2:p.Met671Arg
NM_007300.3:c.5387T>G	NP_009231.2:p.Met1796Arg
NR_027676.1:n.5460T>G
NM_007294.4:c.5324T>G MANE Select	NP_009225.1:p.Met1775Arg
NM_007297.4:c.5183T>G	NP_009228.2:p.Met1728Arg
NM_007299.4:c.2012T>G	NP_009230.2:p.Met671Arg
NM_007300.4:c.5387T>G	NP_009231.2:p.Met1796Arg
NR_027676.2:n.5501T>G