Canonical Allele Identifier: CA002644

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55108
• ClinVar RCV Id: RCV000112266 ; RCV001383616 ; RCV003298096
• dbSNP Id: rs80357397
• gnomAD v4: 17-43091006-C-A
• MyVariant Identifiers: chr17:g.41243023C>A (hg19) ; chr17:g.43091006C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091006C>A , CM000679.2:g.43091006C>A	GRCh38
NC_000017.10:g.41243023C>A , CM000679.1:g.41243023C>A	GRCh37
NC_000017.9:g.38496549C>A	NCBI36
NG_005905.2:g.126978G>T , LRG_292:g.126978G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4123G>T	ENSP00000417241.2:p.Glu1375Ter
ENST00000470026.6:c.4123G>T	ENSP00000419274.2:p.Glu1375Ter
ENST00000473961.6:c.3997G>T	ENSP00000420201.2:p.Glu1333Ter
ENST00000476777.6:c.4120G>T	ENSP00000417554.2:p.Glu1374Ter
ENST00000477152.6:c.4045G>T	ENSP00000419988.2:p.Glu1349Ter
ENST00000478531.6:c.811G>T	ENSP00000420412.2:p.Glu271Ter
ENST00000489037.2:c.4045G>T	ENSP00000420781.2:p.Glu1349Ter
ENST00000493919.6:c.673G>T	ENSP00000418819.2:p.Glu225Ter
ENST00000494123.6:c.4123G>T	ENSP00000419103.2:p.Glu1375Ter
ENST00000497488.2:c.3235G>T	ENSP00000418986.2:p.Glu1079Ter
ENST00000618469.2:c.4123G>T	ENSP00000478114.2:p.Glu1375Ter
ENST00000634433.2:c.4000G>T	ENSP00000489431.2:p.Glu1334Ter
ENST00000644379.2:c.4123G>T	ENSP00000496570.2:p.Glu1375Ter
ENST00000644555.2:c.673G>T	ENSP00000494614.2:p.Glu225Ter
ENST00000652672.2:c.3982G>T	ENSP00000498906.2:p.Glu1328Ter
ENST00000484087.6:c.691G>T	ENSP00000419481.2:p.Glu231Ter
ENST00000700182.1:c.733G>T	ENSP00000514849.1:p.Glu245Ter
ENST00000357654.9:c.4123G>T MANE Select	ENSP00000350283.3:p.Glu1375Ter
ENST00000471181.7:c.4123G>T	ENSP00000418960.2:p.Glu1375Ter
ENST00000644379.1:c.444G>T
ENST00000352993.7:c.697G>T	ENSP00000312236.5:p.Glu233Ter
ENST00000357654.7:c.4123G>T	ENSP00000350283.3:p.Glu1375Ter
ENST00000461221.5:c.*3906G>T	ENSP00000418548.1:n.*3906G>T
ENST00000461574.1:c.417G>T
ENST00000468300.5:c.814G>T	ENSP00000417148.1:p.Glu272Ter
ENST00000471181.6:c.4123G>T	ENSP00000418960.2:p.Glu1375Ter
ENST00000478531.5:c.811G>T	ENSP00000420412.1:p.Glu271Ter
ENST00000484087.5:c.436G>T	ENSP00000419481.1:p.Glu146Ter
ENST00000487825.5:c.439G>T	ENSP00000418212.1:p.Glu147Ter
ENST00000491747.6:c.814G>T	ENSP00000420705.2:p.Glu272Ter
ENST00000493795.5:c.3982G>T	ENSP00000418775.1:p.Glu1328Ter
ENST00000493919.5:c.673G>T	ENSP00000418819.1:p.Glu225Ter
ENST00000586385.5:c.5-27055G>T	ENSP00000465818.1:n.5-27055G>T
ENST00000591534.5:c.-43-16485G>T	ENSP00000467329.1:n.-43-16485G>T
ENST00000591849.5:c.-99+34265G>T	ENSP00000465347.1:n.-99+34265G>T
NM_007294.3:c.4123G>T , LRG_292t1:c.4123G>T	NP_009225.1:p.Glu1375Ter
NM_007297.3:c.3982G>T	NP_009228.2:p.Glu1328Ter
NM_007298.3:c.814G>T	NP_009229.2:p.Glu272Ter
NM_007299.3:c.814G>T	NP_009230.2:p.Glu272Ter
NM_007300.3:c.4123G>T	NP_009231.2:p.Glu1375Ter
NR_027676.1:n.4259G>T
NM_007294.4:c.4123G>T MANE Select	NP_009225.1:p.Glu1375Ter
NM_007297.4:c.3982G>T	NP_009228.2:p.Glu1328Ter
NM_007299.4:c.814G>T	NP_009230.2:p.Glu272Ter
NM_007300.4:c.4123G>T	NP_009231.2:p.Glu1375Ter
NR_027676.2:n.4300G>T