Canonical Allele Identifier: CA054279

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 462666
• ClinVar RCV Id: RCV003238765
• dbSNP Id: rs80357432
• ExAC: 17:41209086 C / G
• gnomAD v2: 17-41209086-C-G
• gnomAD v4: 17-43057069-C-G
• MyVariant Identifiers: chr17:g.41209086C>G (hg19) ; chr17:g.43057069C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057069C>G , CM000679.2:g.43057069C>G	GRCh38
NC_000017.10:g.41209086C>G , CM000679.1:g.41209086C>G	GRCh37
NC_000017.9:g.38462612C>G	NCBI36
NG_005905.2:g.160915G>C , LRG_292:g.160915G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5257G>C	ENSP00000417241.2:p.Glu1753Gln
ENST00000470026.6:c.5260G>C	ENSP00000419274.2:p.Glu1754Gln
ENST00000473961.6:c.5134G>C	ENSP00000420201.2:p.Glu1712Gln
ENST00000476777.6:c.5254G>C	ENSP00000417554.2:p.Glu1752Gln
ENST00000477152.6:c.5182G>C	ENSP00000419988.2:p.Glu1728Gln
ENST00000478531.6:c.1948G>C	ENSP00000420412.2:p.Glu650Gln
ENST00000489037.2:c.5182G>C	ENSP00000420781.2:p.Glu1728Gln
ENST00000493919.6:c.1810G>C	ENSP00000418819.2:p.Glu604Gln
ENST00000494123.6:c.5260G>C	ENSP00000419103.2:p.Glu1754Gln
ENST00000497488.2:c.4372G>C	ENSP00000418986.2:p.Glu1458Gln
ENST00000618469.2:c.5260G>C	ENSP00000478114.2:p.Glu1754Gln
ENST00000634433.2:c.5137G>C	ENSP00000489431.2:p.Glu1713Gln
ENST00000644379.2:c.5326G>C	ENSP00000496570.2:p.Glu1776Gln
ENST00000644555.2:c.1810G>C	ENSP00000494614.2:p.Glu604Gln
ENST00000652672.2:c.5119G>C	ENSP00000498906.2:p.Glu1707Gln
ENST00000484087.6:c.1822G>C	ENSP00000419481.2:p.Glu608Gln
ENST00000357654.9:c.5260G>C MANE Select	ENSP00000350283.3:p.Glu1754Gln
ENST00000471181.7:c.5323G>C	ENSP00000418960.2:p.Glu1775Gln
ENST00000644379.1:c.1647G>C
ENST00000352993.7:c.1834G>C	ENSP00000312236.5:p.Glu612Gln
ENST00000357654.7:c.5260G>C	ENSP00000350283.3:p.Glu1754Gln
ENST00000461221.5:c.*5043G>C	ENSP00000418548.1:n.*5043G>C
ENST00000468300.5:c.1948G>C	ENSP00000417148.1:p.Glu650Gln
ENST00000471181.6:c.5323G>C	ENSP00000418960.2:p.Glu1775Gln
ENST00000491747.6:c.1948G>C	ENSP00000420705.2:p.Glu650Gln
ENST00000493795.5:c.5119G>C	ENSP00000418775.1:p.Glu1707Gln
ENST00000586385.5:c.190G>C	ENSP00000465818.1:p.Glu64Gln
ENST00000591534.5:c.733G>C	ENSP00000467329.1:p.Glu245Gln
ENST00000591849.5:c.-98-6879G>C	ENSP00000465347.1:n.-98-6879G>C
NM_007294.3:c.5260G>C , LRG_292t1:c.5260G>C	NP_009225.1:p.Glu1754Gln
NM_007297.3:c.5119G>C	NP_009228.2:p.Glu1707Gln
NM_007298.3:c.1948G>C	NP_009229.2:p.Glu650Gln
NM_007299.3:c.1948G>C	NP_009230.2:p.Glu650Gln
NM_007300.3:c.5323G>C	NP_009231.2:p.Glu1775Gln
NR_027676.1:n.5396G>C
NM_007294.4:c.5260G>C MANE Select	NP_009225.1:p.Glu1754Gln
NM_007297.4:c.5119G>C	NP_009228.2:p.Glu1707Gln
NM_007299.4:c.1948G>C	NP_009230.2:p.Glu650Gln
NM_007300.4:c.5323G>C	NP_009231.2:p.Glu1775Gln
NR_027676.2:n.5437G>C