Canonical Allele Identifier: CA10584546

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 246175
• ClinVar RCV Id: RCV000236047 ; RCV000569030 ; RCV000695187 ; RCV001072702 ; RCV001353630 ; RCV003477845
• dbSNP Id: rs398122695
• gnomAD v4: 17-43051068-G-T
• MyVariant Identifiers: chr17:g.41203085G>T (hg19) ; chr17:g.43051068G>T (hg38)
• PubMed: PMID:12427738 ; PMID:17719744 ; PMID:21990134

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051068G>T , CM000679.2:g.43051068G>T	GRCh38
NC_000017.10:g.41203085G>T , CM000679.1:g.41203085G>T	GRCh37
NC_000017.9:g.38456611G>T	NCBI36
NG_005905.2:g.166916C>A , LRG_292:g.166916C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5324C>A	ENSP00000417241.2:p.Pro1775His
ENST00000470026.6:c.5327C>A	ENSP00000419274.2:p.Pro1776His
ENST00000473961.6:c.5201C>A	ENSP00000420201.2:p.Pro1734His
ENST00000476777.6:c.5321C>A	ENSP00000417554.2:p.Pro1774His
ENST00000477152.6:c.5249C>A	ENSP00000419988.2:p.Pro1750His
ENST00000478531.6:c.2015C>A	ENSP00000420412.2:p.Pro672His
ENST00000489037.2:c.5249C>A	ENSP00000420781.2:p.Pro1750His
ENST00000493919.6:c.1877C>A	ENSP00000418819.2:p.Pro626His
ENST00000494123.6:c.5327C>A	ENSP00000419103.2:p.Pro1776His
ENST00000497488.2:c.4439C>A	ENSP00000418986.2:p.Pro1480His
ENST00000618469.2:c.5327C>A	ENSP00000478114.2:p.Pro1776His
ENST00000634433.2:c.5204C>A	ENSP00000489431.2:p.Pro1735His
ENST00000644379.2:c.5393C>A	ENSP00000496570.2:p.Pro1798His
ENST00000644555.2:c.1877C>A	ENSP00000494614.2:p.Pro626His
ENST00000652672.2:c.5186C>A	ENSP00000498906.2:p.Pro1729His
ENST00000484087.6:c.1889C>A	ENSP00000419481.2:p.Pro630His
ENST00000357654.9:c.5327C>A MANE Select	ENSP00000350283.3:p.Pro1776His
ENST00000471181.7:c.5390C>A	ENSP00000418960.2:p.Pro1797His
ENST00000644379.1:c.1714C>A
ENST00000352993.7:c.1901C>A	ENSP00000312236.5:p.Pro634His
ENST00000357654.7:c.5327C>A	ENSP00000350283.3:p.Pro1776His
ENST00000461221.5:c.*5110C>A	ENSP00000418548.1:n.*5110C>A
ENST00000468300.5:c.2015C>A	ENSP00000417148.1:p.Pro672His
ENST00000471181.6:c.5390C>A	ENSP00000418960.2:p.Pro1797His
ENST00000491747.6:c.2015C>A	ENSP00000420705.2:p.Pro672His
ENST00000493795.5:c.5186C>A	ENSP00000418775.1:p.Pro1729His
ENST00000586385.5:c.257C>A	ENSP00000465818.1:p.Pro86His
ENST00000591534.5:c.800C>A	ENSP00000467329.1:p.Pro267His
ENST00000591849.5:c.-98-878C>A	ENSP00000465347.1:n.-98-878C>A
NM_007294.3:c.5327C>A , LRG_292t1:c.5327C>A	NP_009225.1:p.Pro1776His
NM_007297.3:c.5186C>A	NP_009228.2:p.Pro1729His
NM_007298.3:c.2015C>A	NP_009229.2:p.Pro672His
NM_007299.3:c.2015C>A	NP_009230.2:p.Pro672His
NM_007300.3:c.5390C>A	NP_009231.2:p.Pro1797His
NR_027676.1:n.5463C>A
NM_007294.4:c.5327C>A MANE Select	NP_009225.1:p.Pro1776His
NM_007297.4:c.5186C>A	NP_009228.2:p.Pro1729His
NM_007299.4:c.2015C>A	NP_009230.2:p.Pro672His
NM_007300.4:c.5390C>A	NP_009231.2:p.Pro1797His
NR_027676.2:n.5504C>A