Canonical Allele Identifier: CA003048

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071074G>A , CM000679.2:g.43071074G>A	GRCh38
NC_000017.10:g.41223091G>A , CM000679.1:g.41223091G>A	GRCh37
NC_000017.9:g.38476617G>A	NCBI36
NG_005905.2:g.146910C>T , LRG_292:g.146910C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4837C>T	ENSP00000417241.2:p.Pro1613Ser
ENST00000470026.6:c.4840C>T	ENSP00000419274.2:p.Pro1614Ser
ENST00000473961.6:c.4714C>T	ENSP00000420201.2:p.Pro1572Ser
ENST00000476777.6:c.4834C>T	ENSP00000417554.2:p.Pro1612Ser
ENST00000477152.6:c.4762C>T	ENSP00000419988.2:p.Pro1588Ser
ENST00000478531.6:c.1528C>T	ENSP00000420412.2:p.Pro510Ser
ENST00000489037.2:c.4762C>T	ENSP00000420781.2:p.Pro1588Ser
ENST00000493919.6:c.1390C>T	ENSP00000418819.2:p.Pro464Ser
ENST00000494123.6:c.4840C>T	ENSP00000419103.2:p.Pro1614Ser
ENST00000497488.2:c.3952C>T	ENSP00000418986.2:p.Pro1318Ser
ENST00000618469.2:c.4840C>T	ENSP00000478114.2:p.Pro1614Ser
ENST00000634433.2:c.4717C>T	ENSP00000489431.2:p.Pro1573Ser
ENST00000644379.2:c.4906C>T	ENSP00000496570.2:p.Pro1636Ser
ENST00000644555.2:c.1390C>T	ENSP00000494614.2:p.Pro464Ser
ENST00000652672.2:c.4699C>T	ENSP00000498906.2:p.Pro1567Ser
ENST00000484087.6:c.1402C>T	ENSP00000419481.2:p.Pro468Ser
ENST00000700182.1:c.1447C>T	ENSP00000514849.1:p.Pro483Ser
ENST00000357654.9:c.4840C>T MANE Select	ENSP00000350283.3:p.Pro1614Ser
ENST00000471181.7:c.4903C>T	ENSP00000418960.2:p.Pro1635Ser
ENST00000644379.1:c.1227C>T
ENST00000352993.7:c.1414C>T	ENSP00000312236.5:p.Pro472Ser
ENST00000357654.7:c.4840C>T	ENSP00000350283.3:p.Pro1614Ser
ENST00000461221.5:c.*4623C>T	ENSP00000418548.1:n.*4623C>T
ENST00000468300.5:c.1528C>T	ENSP00000417148.1:p.Pro510Ser
ENST00000471181.6:c.4903C>T	ENSP00000418960.2:p.Pro1635Ser
ENST00000478531.5:c.1528C>T	ENSP00000420412.1:p.Pro510Ser
ENST00000484087.5:c.1153C>T	ENSP00000419481.1:p.Pro385Ser
ENST00000491747.6:c.1528C>T	ENSP00000420705.2:p.Pro510Ser
ENST00000493795.5:c.4699C>T	ENSP00000418775.1:p.Pro1567Ser
ENST00000493919.5:c.1390C>T	ENSP00000418819.1:p.Pro464Ser
ENST00000586385.5:c.5-7123C>T	ENSP00000465818.1:n.5-7123C>T
ENST00000591534.5:c.313C>T	ENSP00000467329.1:p.Pro105Ser
ENST00000591849.5:c.-98-20884C>T	ENSP00000465347.1:n.-98-20884C>T
NM_007294.3:c.4840C>T , LRG_292t1:c.4840C>T	NP_009225.1:p.Pro1614Ser
NM_007297.3:c.4699C>T	NP_009228.2:p.Pro1567Ser
NM_007298.3:c.1528C>T	NP_009229.2:p.Pro510Ser
NM_007299.3:c.1528C>T	NP_009230.2:p.Pro510Ser
NM_007300.3:c.4903C>T	NP_009231.2:p.Pro1635Ser
NR_027676.1:n.4976C>T
NM_007294.4:c.4840C>T MANE Select	NP_009225.1:p.Pro1614Ser
NM_007297.4:c.4699C>T	NP_009228.2:p.Pro1567Ser
NM_007299.4:c.1528C>T	NP_009230.2:p.Pro510Ser
NM_007300.4:c.4903C>T	NP_009231.2:p.Pro1635Ser
NR_027676.2:n.5017C>T