Canonical Allele Identifier: CA002798

Gene: BRCA1 RPL21P4

Linked Data

• ClinVar Variation Id: 162503
• ClinVar RCV Id: RCV000149888 ; RCV003998181
• dbSNP Id: rs374435098
• ExAC: 17:41231417 C / T
• gnomAD v2: 17-41231417-C-T
• gnomAD v3: 17-43079400-C-T
• gnomAD v4: 17-43079400-C-T
• MyVariant Identifiers: chr17:g.41231417C>T (hg19) ; chr17:g.43079400C>T (hg38)
• PubMed: PMID:25637381

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43079400C>T , CM000679.2:g.43079400C>T	GRCh38
NC_000017.10:g.41231417C>T , CM000679.1:g.41231417C>T	GRCh37
NC_000017.9:g.38484943C>T	NCBI36
NG_005905.2:g.138584G>A , LRG_292:g.138584G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4358-2789G>A (BRCA1)	ENSP00000417241.2:n.4358-2789G>A
ENST00000470026.6:c.4358-2786G>A (BRCA1)	ENSP00000419274.2:n.4358-2786G>A
ENST00000473961.6:c.4232-2786G>A (BRCA1)	ENSP00000420201.2:n.4232-2786G>A
ENST00000476777.6:c.4352-2786G>A (BRCA1)	ENSP00000417554.2:n.4352-2786G>A
ENST00000477152.6:c.4280-2786G>A (BRCA1)	ENSP00000419988.2:n.4280-2786G>A
ENST00000478531.6:c.1046-2786G>A (BRCA1)	ENSP00000420412.2:n.1046-2786G>A
ENST00000489037.2:c.4280-2786G>A (BRCA1)	ENSP00000420781.2:n.4280-2786G>A
ENST00000493919.6:c.908-2786G>A (BRCA1)	ENSP00000418819.2:n.908-2786G>A
ENST00000494123.6:c.4358-2786G>A (BRCA1)	ENSP00000419103.2:n.4358-2786G>A
ENST00000497488.2:c.3470-2786G>A (BRCA1)	ENSP00000418986.2:n.3470-2786G>A
ENST00000618469.2:c.4358-2786G>A (BRCA1)	ENSP00000478114.2:n.4358-2786G>A
ENST00000634433.2:c.4235-2786G>A (BRCA1)	ENSP00000489431.2:n.4235-2786G>A
ENST00000644379.2:c.4358-1G>A (BRCA1)	ENSP00000496570.2:n.4358-1G>A
ENST00000644555.2:c.908-2786G>A (BRCA1)	ENSP00000494614.2:n.908-2786G>A
ENST00000652672.2:c.4217-2786G>A (BRCA1)	ENSP00000498906.2:n.4217-2786G>A
ENST00000484087.6:c.923-2789G>A (BRCA1)	ENSP00000419481.2:n.923-2789G>A
ENST00000700182.1:c.968-2789G>A (BRCA1)	ENSP00000514849.1:n.968-2789G>A
ENST00000357654.9:c.4358-2786G>A (BRCA1) MANE Select	ENSP00000350283.3:n.4358-2786G>A
ENST00000471181.7:c.4358-1G>A (BRCA1)	ENSP00000418960.2:n.4358-1G>A
ENST00000644379.1:c.679-1G>A (BRCA1)
ENST00000352993.7:c.932-2786G>A (BRCA1)	ENSP00000312236.5:n.932-2786G>A
ENST00000357654.7:c.4358-2786G>A (BRCA1)	ENSP00000350283.3:n.4358-2786G>A
ENST00000461221.5:c.*4141-2786G>A (BRCA1)	ENSP00000418548.1:n.*4141-2786G>A
ENST00000461574.1:c.652-2789G>A (BRCA1)
ENST00000468300.5:c.1049-2789G>A (BRCA1)	ENSP00000417148.1:n.1049-2789G>A
ENST00000471181.6:c.4358-1G>A (BRCA1)	ENSP00000418960.2:n.4358-1G>A
ENST00000478531.5:c.1046-2786G>A (BRCA1)	ENSP00000420412.1:n.1046-2786G>A
ENST00000484087.5:c.671-2786G>A (BRCA1)	ENSP00000419481.1:n.671-2786G>A
ENST00000487825.5:c.674-2786G>A (BRCA1)	ENSP00000418212.1:n.674-2786G>A
ENST00000491747.6:c.1049-2789G>A (BRCA1)	ENSP00000420705.2:n.1049-2789G>A
ENST00000493795.5:c.4217-2786G>A (BRCA1)	ENSP00000418775.1:n.4217-2786G>A
ENST00000493919.5:c.908-2786G>A (BRCA1)	ENSP00000418819.1:n.908-2786G>A
ENST00000497954.1:n.99C>T (RPL21P4)
ENST00000586385.5:c.5-15449G>A (BRCA1)	ENSP00000465818.1:n.5-15449G>A
ENST00000591534.5:c.-43-4879G>A (BRCA1)	ENSP00000467329.1:n.-43-4879G>A
ENST00000591849.5:c.-98-29210G>A (BRCA1)	ENSP00000465347.1:n.-98-29210G>A
ENST00000621897.1:n.252-2789G>A (BRCA1)
NM_007294.3:c.4358-2786G>A , LRG_292t1:c.4358-2786G>A (BRCA1)	NP_009225.1:n.4358-2786G>A
NM_007297.3:c.4217-2786G>A (BRCA1)	NP_009228.2:n.4217-2786G>A
NM_007298.3:c.1049-2789G>A (BRCA1)	NP_009229.2:n.1049-2789G>A
NM_007299.3:c.1049-2789G>A (BRCA1)	NP_009230.2:n.1049-2789G>A
NM_007300.3:c.4358-1G>A (BRCA1)	NP_009231.2:n.4358-1G>A
NR_027676.1:n.4494-2786G>A (BRCA1)
NM_007294.4:c.4358-2786G>A (BRCA1) MANE Select	NP_009225.1:n.4358-2786G>A
NM_007297.4:c.4217-2786G>A (BRCA1)	NP_009228.2:n.4217-2786G>A
NM_007299.4:c.1049-2789G>A (BRCA1)	NP_009230.2:n.1049-2789G>A
NM_007300.4:c.4358-1G>A (BRCA1)	NP_009231.2:n.4358-1G>A
NR_027676.2:n.4535-2786G>A (BRCA1)