Canonical Allele Identifier: CA003403

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55489
• ClinVar RCV Id: RCV002336199
• dbSNP Id: rs80357432
• gnomAD v2: 17-41209086-C-A
• gnomAD v4: 17-43057069-C-A
• MyVariant Identifiers: chr17:g.41209086C>A (hg19) ; chr17:g.43057069C>A (hg38)
• PubMed: PMID:12497638

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5257G>T	ENSP00000417241.2:p.Glu1753Ter
ENST00000470026.6:c.5260G>T	ENSP00000419274.2:p.Glu1754Ter
ENST00000473961.6:c.5134G>T	ENSP00000420201.2:p.Glu1712Ter
ENST00000476777.6:c.5254G>T	ENSP00000417554.2:p.Glu1752Ter
ENST00000477152.6:c.5182G>T	ENSP00000419988.2:p.Glu1728Ter
ENST00000478531.6:c.1948G>T	ENSP00000420412.2:p.Glu650Ter
ENST00000489037.2:c.5182G>T	ENSP00000420781.2:p.Glu1728Ter
ENST00000493919.6:c.1810G>T	ENSP00000418819.2:p.Glu604Ter
ENST00000494123.6:c.5260G>T	ENSP00000419103.2:p.Glu1754Ter
ENST00000497488.2:c.4372G>T	ENSP00000418986.2:p.Glu1458Ter
ENST00000618469.2:c.5260G>T	ENSP00000478114.2:p.Glu1754Ter
ENST00000634433.2:c.5137G>T	ENSP00000489431.2:p.Glu1713Ter
ENST00000644379.2:c.5326G>T	ENSP00000496570.2:p.Glu1776Ter
ENST00000644555.2:c.1810G>T	ENSP00000494614.2:p.Glu604Ter
ENST00000652672.2:c.5119G>T	ENSP00000498906.2:p.Glu1707Ter
ENST00000484087.6:c.1822G>T	ENSP00000419481.2:p.Glu608Ter
ENST00000357654.9:c.5260G>T MANE Select	ENSP00000350283.3:p.Glu1754Ter
ENST00000471181.7:c.5323G>T	ENSP00000418960.2:p.Glu1775Ter
ENST00000644379.1:c.1647G>T
ENST00000352993.7:c.1834G>T	ENSP00000312236.5:p.Glu612Ter
ENST00000357654.7:c.5260G>T	ENSP00000350283.3:p.Glu1754Ter
ENST00000461221.5:c.*5043G>T	ENSP00000418548.1:n.*5043G>T
ENST00000468300.5:c.1948G>T	ENSP00000417148.1:p.Glu650Ter
ENST00000471181.6:c.5323G>T	ENSP00000418960.2:p.Glu1775Ter
ENST00000491747.6:c.1948G>T	ENSP00000420705.2:p.Glu650Ter
ENST00000493795.5:c.5119G>T	ENSP00000418775.1:p.Glu1707Ter
ENST00000586385.5:c.190G>T	ENSP00000465818.1:p.Glu64Ter
ENST00000591534.5:c.733G>T	ENSP00000467329.1:p.Glu245Ter
ENST00000591849.5:c.-98-6879G>T	ENSP00000465347.1:n.-98-6879G>T
NM_007294.3:c.5260G>T , LRG_292t1:c.5260G>T	NP_009225.1:p.Glu1754Ter
NM_007297.3:c.5119G>T	NP_009228.2:p.Glu1707Ter
NM_007298.3:c.1948G>T	NP_009229.2:p.Glu650Ter
NM_007299.3:c.1948G>T	NP_009230.2:p.Glu650Ter
NM_007300.3:c.5323G>T	NP_009231.2:p.Glu1775Ter
NR_027676.1:n.5396G>T
NM_007294.4:c.5260G>T MANE Select	NP_009225.1:p.Glu1754Ter
NM_007297.4:c.5119G>T	NP_009228.2:p.Glu1707Ter
NM_007299.4:c.1948G>T	NP_009230.2:p.Glu650Ter
NM_007300.4:c.5323G>T	NP_009231.2:p.Glu1775Ter
NR_027676.2:n.5437G>T