Canonical Allele Identifier: CA002828

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55194
• ClinVar RCV Id: RCV000112334 ; RCV000132050
• dbSNP Id: rs80356960
• MyVariant Identifiers: chr17:g.41228584G>A (hg19) ; chr17:g.43076567G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076567G>A , CM000679.2:g.43076567G>A	GRCh38
NC_000017.10:g.41228584G>A , CM000679.1:g.41228584G>A	GRCh37
NC_000017.9:g.38482110G>A	NCBI36
NG_005905.2:g.141417C>T , LRG_292:g.141417C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4402C>T	ENSP00000417241.2:p.Pro1468Ser
ENST00000470026.6:c.4405C>T	ENSP00000419274.2:p.Pro1469Ser
ENST00000473961.6:c.4279C>T	ENSP00000420201.2:p.Pro1427Ser
ENST00000476777.6:c.4399C>T	ENSP00000417554.2:p.Pro1467Ser
ENST00000477152.6:c.4327C>T	ENSP00000419988.2:p.Pro1443Ser
ENST00000478531.6:c.1093C>T	ENSP00000420412.2:p.Pro365Ser
ENST00000489037.2:c.4327C>T	ENSP00000420781.2:p.Pro1443Ser
ENST00000493919.6:c.955C>T	ENSP00000418819.2:p.Pro319Ser
ENST00000494123.6:c.4405C>T	ENSP00000419103.2:p.Pro1469Ser
ENST00000497488.2:c.3517C>T	ENSP00000418986.2:p.Pro1173Ser
ENST00000618469.2:c.4405C>T	ENSP00000478114.2:p.Pro1469Ser
ENST00000634433.2:c.4282C>T	ENSP00000489431.2:p.Pro1428Ser
ENST00000644379.2:c.4471C>T	ENSP00000496570.2:p.Pro1491Ser
ENST00000644555.2:c.955C>T	ENSP00000494614.2:p.Pro319Ser
ENST00000652672.2:c.4264C>T	ENSP00000498906.2:p.Pro1422Ser
ENST00000484087.6:c.967C>T	ENSP00000419481.2:p.Pro323Ser
ENST00000700182.1:c.1012C>T	ENSP00000514849.1:p.Pro338Ser
ENST00000357654.9:c.4405C>T MANE Select	ENSP00000350283.3:p.Pro1469Ser
ENST00000471181.7:c.4468C>T	ENSP00000418960.2:p.Pro1490Ser
ENST00000644379.1:c.792C>T
ENST00000352993.7:c.979C>T	ENSP00000312236.5:p.Pro327Ser
ENST00000357654.7:c.4405C>T	ENSP00000350283.3:p.Pro1469Ser
ENST00000461221.5:c.*4188C>T	ENSP00000418548.1:n.*4188C>T
ENST00000461574.1:c.696C>T
ENST00000468300.5:c.1093C>T	ENSP00000417148.1:p.Pro365Ser
ENST00000471181.6:c.4468C>T	ENSP00000418960.2:p.Pro1490Ser
ENST00000478531.5:c.1093C>T	ENSP00000420412.1:p.Pro365Ser
ENST00000484087.5:c.718C>T	ENSP00000419481.1:p.Pro240Ser
ENST00000487825.5:c.721C>T	ENSP00000418212.1:p.Pro241Ser
ENST00000491747.6:c.1093C>T	ENSP00000420705.2:p.Pro365Ser
ENST00000493795.5:c.4264C>T	ENSP00000418775.1:p.Pro1422Ser
ENST00000493919.5:c.955C>T	ENSP00000418819.1:p.Pro319Ser
ENST00000586385.5:c.5-12616C>T	ENSP00000465818.1:n.5-12616C>T
ENST00000591534.5:c.-43-2046C>T	ENSP00000467329.1:n.-43-2046C>T
ENST00000591849.5:c.-98-26377C>T	ENSP00000465347.1:n.-98-26377C>T
ENST00000621897.1:n.296C>T
NM_007294.3:c.4405C>T , LRG_292t1:c.4405C>T	NP_009225.1:p.Pro1469Ser
NM_007297.3:c.4264C>T	NP_009228.2:p.Pro1422Ser
NM_007298.3:c.1093C>T	NP_009229.2:p.Pro365Ser
NM_007299.3:c.1093C>T	NP_009230.2:p.Pro365Ser
NM_007300.3:c.4468C>T	NP_009231.2:p.Pro1490Ser
NR_027676.1:n.4541C>T
NM_007294.4:c.4405C>T MANE Select	NP_009225.1:p.Pro1469Ser
NM_007297.4:c.4264C>T	NP_009228.2:p.Pro1422Ser
NM_007299.4:c.1093C>T	NP_009230.2:p.Pro365Ser
NM_007300.4:c.4468C>T	NP_009231.2:p.Pro1490Ser
NR_027676.2:n.4582C>T