Canonical Allele Identifier: CA003235

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37636
• ClinVar RCV Id: RCV000031217 ; RCV000048790 ; RCV000131564 ; RCV000195350 ; RCV000735446 ; RCV000785422 ; RCV002250479 ; RCV002496477 ; RCV003162265 ; RCV004554634
• dbSNP Id: rs41293459
• ExAC: 17:41215947 C / T
• gnomAD v2: 17-41215947-C-T
• gnomAD v3: 17-43063930-C-T
• gnomAD v4: 17-43063930-C-T
• MyVariant Identifiers: chr17:g.41215947C>T (hg19) ; chr17:g.43063930C>T (hg38)
• PubMed: PMID:11157798 ; PMID:11410501 ; PMID:11504767 ; PMID:12827452 ; PMID:14534301 ; PMID:15133503 ; PMID:15172985 ; PMID:15235020 ; PMID:15290653 ; PMID:16489001 ; PMID:17308087 ; PMID:18036263 ; PMID:19200354 ; PMID:20301425 ; PMID:20378548 ; PMID:20455026 ; PMID:20516115 ; PMID:21473589 ; PMID:21702907 ; PMID:21946536 ; PMID:21990134 ; PMID:22505045 ; PMID:22889855 ; PMID:23867111 ; PMID:24504028 ; PMID:25782689 ; PMID:25980754 ; PMID:27495310 ; PMID:28490613 ; PMID:28525389

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063930C>T , CM000679.2:g.43063930C>T	GRCh38
NC_000017.10:g.41215947C>T , CM000679.1:g.41215947C>T	GRCh37
NC_000017.9:g.38469473C>T	NCBI36
NG_005905.2:g.154054G>A , LRG_292:g.154054G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5093G>A	ENSP00000417241.2:p.Arg1698Gln
ENST00000470026.6:c.5096G>A	ENSP00000419274.2:p.Arg1699Gln
ENST00000473961.6:c.4970G>A	ENSP00000420201.2:p.Arg1657Gln
ENST00000476777.6:c.5090G>A	ENSP00000417554.2:p.Arg1697Gln
ENST00000477152.6:c.5018G>A	ENSP00000419988.2:p.Arg1673Gln
ENST00000478531.6:c.1784G>A	ENSP00000420412.2:p.Arg595Gln
ENST00000489037.2:c.5018G>A	ENSP00000420781.2:p.Arg1673Gln
ENST00000493919.6:c.1646G>A	ENSP00000418819.2:p.Arg549Gln
ENST00000494123.6:c.5096G>A	ENSP00000419103.2:p.Arg1699Gln
ENST00000497488.2:c.4208G>A	ENSP00000418986.2:p.Arg1403Gln
ENST00000618469.2:c.5096G>A	ENSP00000478114.2:p.Arg1699Gln
ENST00000634433.2:c.4973G>A	ENSP00000489431.2:p.Arg1658Gln
ENST00000644379.2:c.5162G>A	ENSP00000496570.2:p.Arg1721Gln
ENST00000644555.2:c.1646G>A	ENSP00000494614.2:p.Arg549Gln
ENST00000652672.2:c.4955G>A	ENSP00000498906.2:p.Arg1652Gln
ENST00000484087.6:c.1658G>A	ENSP00000419481.2:p.Arg553Gln
ENST00000357654.9:c.5096G>A MANE Select	ENSP00000350283.3:p.Arg1699Gln
ENST00000471181.7:c.5159G>A	ENSP00000418960.2:p.Arg1720Gln
ENST00000644379.1:c.1483G>A
ENST00000352993.7:c.1670G>A	ENSP00000312236.5:p.Arg557Gln
ENST00000357654.7:c.5096G>A	ENSP00000350283.3:p.Arg1699Gln
ENST00000461221.5:c.*4879G>A	ENSP00000418548.1:n.*4879G>A
ENST00000468300.5:c.1784G>A	ENSP00000417148.1:p.Arg595Gln
ENST00000471181.6:c.5159G>A	ENSP00000418960.2:p.Arg1720Gln
ENST00000478531.5:c.1784G>A	ENSP00000420412.1:p.Arg595Gln
ENST00000484087.5:c.1409G>A	ENSP00000419481.1:p.Arg470Gln
ENST00000491747.6:c.1784G>A	ENSP00000420705.2:p.Arg595Gln
ENST00000493795.5:c.4955G>A	ENSP00000418775.1:p.Arg1652Gln
ENST00000493919.5:c.1646G>A	ENSP00000418819.1:p.Arg549Gln
ENST00000586385.5:c.26G>A	ENSP00000465818.1:p.Arg9Gln
ENST00000591534.5:c.569G>A	ENSP00000467329.1:p.Arg190Gln
ENST00000591849.5:c.-98-13740G>A	ENSP00000465347.1:n.-98-13740G>A
NM_007294.3:c.5096G>A , LRG_292t1:c.5096G>A	NP_009225.1:p.Arg1699Gln
NM_007297.3:c.4955G>A	NP_009228.2:p.Arg1652Gln
NM_007298.3:c.1784G>A	NP_009229.2:p.Arg595Gln
NM_007299.3:c.1784G>A	NP_009230.2:p.Arg595Gln
NM_007300.3:c.5159G>A	NP_009231.2:p.Arg1720Gln
NR_027676.1:n.5232G>A
NM_007294.4:c.5096G>A MANE Select	NP_009225.1:p.Arg1699Gln
NM_007297.4:c.4955G>A	NP_009228.2:p.Arg1652Gln
NM_007299.4:c.1784G>A	NP_009230.2:p.Arg595Gln
NM_007300.4:c.5159G>A	NP_009231.2:p.Arg1720Gln
NR_027676.2:n.5273G>A