Canonical Allele Identifier: CA003147

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067684G>A , CM000679.2:g.43067684G>A	GRCh38
NC_000017.10:g.41219701G>A , CM000679.1:g.41219701G>A	GRCh37
NC_000017.9:g.38473227G>A	NCBI36
NG_005905.2:g.150300C>T , LRG_292:g.150300C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4998C>T MANE Select	NP_009225.1:p.Tyr1666=
ENST00000357654.9:c.4998C>T MANE Select	ENSP00000350283.3:p.Tyr1666=
NM_007294.3:c.4998C>T , LRG_292t1:c.4998C>T	NP_009225.1:p.Tyr1666=
NM_007297.3:c.4857C>T	NP_009228.2:p.Tyr1619=
NM_007297.4:c.4857C>T	NP_009228.2:p.Tyr1619=
NM_007298.3:c.1686C>T	NP_009229.2:p.Tyr562=
NM_007299.3:c.1686C>T	NP_009230.2:p.Tyr562=
NM_007299.4:c.1686C>T	NP_009230.2:p.Tyr562=
NM_007300.3:c.5061C>T	NP_009231.2:p.Tyr1687=
NM_007300.4:c.5061C>T	NP_009231.2:p.Tyr1687=
NR_027676.1:n.5134C>T
NR_027676.2:n.5175C>T
ENST00000352993.7:c.1572C>T	ENSP00000312236.5:p.Tyr524=
ENST00000357654.7:c.4998C>T	ENSP00000350283.3:p.Tyr1666=
ENST00000461221.5:c.*4781C>T	ENSP00000418548.1:n.*4781C>T
ENST00000461574.2:c.4995C>T	ENSP00000417241.2:p.Tyr1665=
ENST00000468300.5:c.1686C>T	ENSP00000417148.1:p.Tyr562=
ENST00000470026.6:c.4998C>T	ENSP00000419274.2:p.Tyr1666=
ENST00000471181.6:c.5061C>T	ENSP00000418960.2:p.Tyr1687=
ENST00000471181.7:c.5061C>T	ENSP00000418960.2:p.Tyr1687=
ENST00000472490.1:n.151C>T
ENST00000473961.6:c.4872C>T	ENSP00000420201.2:p.Tyr1624=
ENST00000476777.6:c.4992C>T	ENSP00000417554.2:p.Tyr1664=
ENST00000477152.6:c.4920C>T	ENSP00000419988.2:p.Tyr1640=
ENST00000478531.5:c.1686C>T	ENSP00000420412.1:p.Tyr562=
ENST00000478531.6:c.1686C>T	ENSP00000420412.2:p.Tyr562=
ENST00000484087.5:c.1311C>T	ENSP00000419481.1:p.Tyr437=
ENST00000484087.6:c.1560C>T	ENSP00000419481.2:p.Tyr520=
ENST00000489037.2:c.4920C>T	ENSP00000420781.2:p.Tyr1640=
ENST00000491747.6:c.1686C>T	ENSP00000420705.2:p.Tyr562=
ENST00000493795.5:c.4857C>T	ENSP00000418775.1:p.Tyr1619=
ENST00000493919.5:c.1548C>T	ENSP00000418819.1:p.Tyr516=
ENST00000493919.6:c.1548C>T	ENSP00000418819.2:p.Tyr516=
ENST00000494123.6:c.4998C>T	ENSP00000419103.2:p.Tyr1666=
ENST00000497488.2:c.4110C>T	ENSP00000418986.2:p.Tyr1370=
ENST00000586385.5:c.5-3733C>T	ENSP00000465818.1:n.5-3733C>T
ENST00000591534.5:c.471C>T	ENSP00000467329.1:p.Tyr157=
ENST00000591849.5:c.-98-17494C>T	ENSP00000465347.1:n.-98-17494C>T
ENST00000618469.2:c.4998C>T	ENSP00000478114.2:p.Tyr1666=
ENST00000634433.2:c.4875C>T	ENSP00000489431.2:p.Tyr1625=
ENST00000644379.1:c.1385C>T
ENST00000644379.2:c.5064C>T	ENSP00000496570.2:p.Tyr1688=
ENST00000644555.2:c.1548C>T	ENSP00000494614.2:p.Tyr516=
ENST00000652672.2:c.4857C>T	ENSP00000498906.2:p.Tyr1619=