Canonical Allele Identifier: CA003379

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55473
• ClinVar RCV Id: RCV000112575 ; RCV000580781 ; RCV000779874 ; RCV001358372
• dbSNP Id: rs80357367
• gnomAD v4: 17-43057090-G-A
• MyVariant Identifiers: chr17:g.41209107G>A (hg19) ; chr17:g.43057090G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057090G>A , CM000679.2:g.43057090G>A	GRCh38
NC_000017.10:g.41209107G>A , CM000679.1:g.41209107G>A	GRCh37
NC_000017.9:g.38462633G>A	NCBI36
NG_005905.2:g.160894C>T , LRG_292:g.160894C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5236C>T	ENSP00000417241.2:p.Gln1746Ter
ENST00000470026.6:c.5239C>T	ENSP00000419274.2:p.Gln1747Ter
ENST00000473961.6:c.5113C>T	ENSP00000420201.2:p.Gln1705Ter
ENST00000476777.6:c.5233C>T	ENSP00000417554.2:p.Gln1745Ter
ENST00000477152.6:c.5161C>T	ENSP00000419988.2:p.Gln1721Ter
ENST00000478531.6:c.1927C>T	ENSP00000420412.2:p.Gln643Ter
ENST00000489037.2:c.5161C>T	ENSP00000420781.2:p.Gln1721Ter
ENST00000493919.6:c.1789C>T	ENSP00000418819.2:p.Gln597Ter
ENST00000494123.6:c.5239C>T	ENSP00000419103.2:p.Gln1747Ter
ENST00000497488.2:c.4351C>T	ENSP00000418986.2:p.Gln1451Ter
ENST00000618469.2:c.5239C>T	ENSP00000478114.2:p.Gln1747Ter
ENST00000634433.2:c.5116C>T	ENSP00000489431.2:p.Gln1706Ter
ENST00000644379.2:c.5305C>T	ENSP00000496570.2:p.Gln1769Ter
ENST00000644555.2:c.1789C>T	ENSP00000494614.2:p.Gln597Ter
ENST00000652672.2:c.5098C>T	ENSP00000498906.2:p.Gln1700Ter
ENST00000484087.6:c.1801C>T	ENSP00000419481.2:p.Gln601Ter
ENST00000357654.9:c.5239C>T MANE Select	ENSP00000350283.3:p.Gln1747Ter
ENST00000471181.7:c.5302C>T	ENSP00000418960.2:p.Gln1768Ter
ENST00000644379.1:c.1626C>T
ENST00000352993.7:c.1813C>T	ENSP00000312236.5:p.Gln605Ter
ENST00000357654.7:c.5239C>T	ENSP00000350283.3:p.Gln1747Ter
ENST00000461221.5:c.*5022C>T	ENSP00000418548.1:n.*5022C>T
ENST00000468300.5:c.1927C>T	ENSP00000417148.1:p.Gln643Ter
ENST00000471181.6:c.5302C>T	ENSP00000418960.2:p.Gln1768Ter
ENST00000491747.6:c.1927C>T	ENSP00000420705.2:p.Gln643Ter
ENST00000493795.5:c.5098C>T	ENSP00000418775.1:p.Gln1700Ter
ENST00000586385.5:c.169C>T	ENSP00000465818.1:p.Gln57Ter
ENST00000591534.5:c.712C>T	ENSP00000467329.1:p.Gln238Ter
ENST00000591849.5:c.-98-6900C>T	ENSP00000465347.1:n.-98-6900C>T
NM_007294.3:c.5239C>T , LRG_292t1:c.5239C>T	NP_009225.1:p.Gln1747Ter
NM_007297.3:c.5098C>T	NP_009228.2:p.Gln1700Ter
NM_007298.3:c.1927C>T	NP_009229.2:p.Gln643Ter
NM_007299.3:c.1927C>T	NP_009230.2:p.Gln643Ter
NM_007300.3:c.5302C>T	NP_009231.2:p.Gln1768Ter
NR_027676.1:n.5375C>T
NM_007294.4:c.5239C>T MANE Select	NP_009225.1:p.Gln1747Ter
NM_007297.4:c.5098C>T	NP_009228.2:p.Gln1700Ter
NM_007299.4:c.1927C>T	NP_009230.2:p.Gln643Ter
NM_007300.4:c.5302C>T	NP_009231.2:p.Gln1768Ter
NR_027676.2:n.5416C>T