Canonical Allele Identifier: CA10591759

Gene: BRCA1

Linked Data

• dbSNP Id: rs2153825053
• MyVariant Identifiers: chr17:g.41223046C>T (hg19) ; chr17:g.43071029C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071029C>T , CM000679.2:g.43071029C>T	GRCh38
NC_000017.10:g.41223046C>T , CM000679.1:g.41223046C>T	GRCh37
NC_000017.9:g.38476572C>T	NCBI36
NG_005905.2:g.146955G>A , LRG_292:g.146955G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4882G>A	ENSP00000417241.2:p.Glu1628Lys
ENST00000470026.6:c.4885G>A	ENSP00000419274.2:p.Glu1629Lys
ENST00000473961.6:c.4759G>A	ENSP00000420201.2:p.Glu1587Lys
ENST00000476777.6:c.4879G>A	ENSP00000417554.2:p.Glu1627Lys
ENST00000477152.6:c.4807G>A	ENSP00000419988.2:p.Glu1603Lys
ENST00000478531.6:c.1573G>A	ENSP00000420412.2:p.Glu525Lys
ENST00000489037.2:c.4807G>A	ENSP00000420781.2:p.Glu1603Lys
ENST00000493919.6:c.1435G>A	ENSP00000418819.2:p.Glu479Lys
ENST00000494123.6:c.4885G>A	ENSP00000419103.2:p.Glu1629Lys
ENST00000497488.2:c.3997G>A	ENSP00000418986.2:p.Glu1333Lys
ENST00000618469.2:c.4885G>A	ENSP00000478114.2:p.Glu1629Lys
ENST00000634433.2:c.4762G>A	ENSP00000489431.2:p.Glu1588Lys
ENST00000644379.2:c.4951G>A	ENSP00000496570.2:p.Glu1651Lys
ENST00000644555.2:c.1435G>A	ENSP00000494614.2:p.Glu479Lys
ENST00000652672.2:c.4744G>A	ENSP00000498906.2:p.Glu1582Lys
ENST00000484087.6:c.1447G>A	ENSP00000419481.2:p.Glu483Lys
ENST00000700182.1:c.1492G>A	ENSP00000514849.1:p.Glu498Lys
ENST00000357654.9:c.4885G>A MANE Select	ENSP00000350283.3:p.Glu1629Lys
ENST00000471181.7:c.4948G>A	ENSP00000418960.2:p.Glu1650Lys
ENST00000644379.1:c.1272G>A
ENST00000352993.7:c.1459G>A	ENSP00000312236.5:p.Glu487Lys
ENST00000357654.7:c.4885G>A	ENSP00000350283.3:p.Glu1629Lys
ENST00000461221.5:c.*4668G>A	ENSP00000418548.1:n.*4668G>A
ENST00000468300.5:c.1573G>A	ENSP00000417148.1:p.Glu525Lys
ENST00000471181.6:c.4948G>A	ENSP00000418960.2:p.Glu1650Lys
ENST00000472490.1:n.38G>A
ENST00000478531.5:c.1573G>A	ENSP00000420412.1:p.Glu525Lys
ENST00000484087.5:c.1198G>A	ENSP00000419481.1:p.Glu400Lys
ENST00000491747.6:c.1573G>A	ENSP00000420705.2:p.Glu525Lys
ENST00000493795.5:c.4744G>A	ENSP00000418775.1:p.Glu1582Lys
ENST00000493919.5:c.1435G>A	ENSP00000418819.1:p.Glu479Lys
ENST00000586385.5:c.5-7078G>A	ENSP00000465818.1:n.5-7078G>A
ENST00000591534.5:c.358G>A	ENSP00000467329.1:p.Glu120Lys
ENST00000591849.5:c.-98-20839G>A	ENSP00000465347.1:n.-98-20839G>A
NM_007294.3:c.4885G>A , LRG_292t1:c.4885G>A	NP_009225.1:p.Glu1629Lys
NM_007297.3:c.4744G>A	NP_009228.2:p.Glu1582Lys
NM_007298.3:c.1573G>A	NP_009229.2:p.Glu525Lys
NM_007299.3:c.1573G>A	NP_009230.2:p.Glu525Lys
NM_007300.3:c.4948G>A	NP_009231.2:p.Glu1650Lys
NR_027676.1:n.5021G>A
NM_007294.4:c.4885G>A MANE Select	NP_009225.1:p.Glu1629Lys
NM_007297.4:c.4744G>A	NP_009228.2:p.Glu1582Lys
NM_007299.4:c.1573G>A	NP_009230.2:p.Glu525Lys
NM_007300.4:c.4948G>A	NP_009231.2:p.Glu1650Lys
NR_027676.2:n.5062G>A