Canonical Allele Identifier: CA10590614

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 825717
• ClinVar RCV Id: RCV001024072 ; RCV001077385 ; RCV003645149
• dbSNP Id: rs786202721
• MyVariant Identifiers: chr17:g.41199708T>A (hg19) ; chr17:g.43047691T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047691T>A , CM000679.2:g.43047691T>A	GRCh38
NC_000017.10:g.41199708T>A , CM000679.1:g.41199708T>A	GRCh37
NC_000017.9:g.38453234T>A	NCBI36
NG_005905.2:g.170293A>T , LRG_292:g.170293A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5416A>T	ENSP00000417241.2:p.Ile1806Phe
ENST00000470026.6:c.5419A>T	ENSP00000419274.2:p.Ile1807Phe
ENST00000473961.6:c.5293A>T	ENSP00000420201.2:p.Ile1765Phe
ENST00000476777.6:c.5413A>T	ENSP00000417554.2:p.Ile1805Phe
ENST00000477152.6:c.5341A>T	ENSP00000419988.2:p.Ile1781Phe
ENST00000478531.6:c.2107A>T	ENSP00000420412.2:p.Ile703Phe
ENST00000489037.2:c.5341A>T	ENSP00000420781.2:p.Ile1781Phe
ENST00000493919.6:c.1969A>T	ENSP00000418819.2:p.Ile657Phe
ENST00000494123.6:c.5419A>T	ENSP00000419103.2:p.Ile1807Phe
ENST00000497488.2:c.4531A>T	ENSP00000418986.2:p.Ile1511Phe
ENST00000618469.2:c.5419A>T	ENSP00000478114.2:p.Ile1807Phe
ENST00000634433.2:c.5296A>T	ENSP00000489431.2:p.Ile1766Phe
ENST00000644379.2:c.5485A>T	ENSP00000496570.2:p.Ile1829Phe
ENST00000644555.2:c.1969A>T	ENSP00000494614.2:p.Ile657Phe
ENST00000652672.2:c.5278A>T	ENSP00000498906.2:p.Ile1760Phe
ENST00000484087.6:c.1981A>T	ENSP00000419481.2:p.Ile661Phe
ENST00000700081.1:n.1302A>T
ENST00000700082.1:n.783A>T
ENST00000357654.9:c.5419A>T MANE Select	ENSP00000350283.3:p.Ile1807Phe
ENST00000471181.7:c.5482A>T	ENSP00000418960.2:p.Ile1828Phe
ENST00000644379.1:c.1806A>T
ENST00000352993.7:c.1993A>T	ENSP00000312236.5:p.Ile665Phe
ENST00000357654.7:c.5419A>T	ENSP00000350283.3:p.Ile1807Phe
ENST00000461221.5:c.*5202A>T	ENSP00000418548.1:n.*5202A>T
ENST00000468300.5:c.2033A>T	ENSP00000417148.1:p.Asn678Ile
ENST00000471181.6:c.5482A>T	ENSP00000418960.2:p.Ile1828Phe
ENST00000491747.6:c.2107A>T	ENSP00000420705.2:p.Ile703Phe
ENST00000493795.5:c.5278A>T	ENSP00000418775.1:p.Ile1760Phe
ENST00000586385.5:c.349A>T	ENSP00000465818.1:p.Ile117Phe
ENST00000591534.5:c.892A>T	ENSP00000467329.1:p.Ile298Phe
ENST00000591849.5:c.118A>T	ENSP00000465347.1:p.Ile40Phe
NM_007294.3:c.5419A>T , LRG_292t1:c.5419A>T	NP_009225.1:p.Ile1807Phe
NM_007297.3:c.5278A>T	NP_009228.2:p.Ile1760Phe
NM_007298.3:c.2107A>T	NP_009229.2:p.Ile703Phe
NM_007299.3:c.2033A>T	NP_009230.2:p.Asn678Ile
NM_007300.3:c.5482A>T	NP_009231.2:p.Ile1828Phe
NR_027676.1:n.5555A>T
NM_007294.4:c.5419A>T MANE Select	NP_009225.1:p.Ile1807Phe
NM_007297.4:c.5278A>T	NP_009228.2:p.Ile1760Phe
NM_007299.4:c.2033A>T	NP_009230.2:p.Asn678Ile
NM_007300.4:c.5482A>T	NP_009231.2:p.Ile1828Phe
NR_027676.2:n.5596A>T