Canonical Allele Identifier: CA337043

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063919A>G , CM000679.2:g.43063919A>G	GRCh38
NC_000017.10:g.41215936A>G , CM000679.1:g.41215936A>G	GRCh37
NC_000017.9:g.38469462A>G	NCBI36
NG_005905.2:g.154065T>C , LRG_292:g.154065T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5107T>C MANE Select	NP_009225.1:p.Tyr1703His
ENST00000357654.9:c.5107T>C MANE Select	ENSP00000350283.3:p.Tyr1703His
NM_007294.3:c.5107T>C , LRG_292t1:c.5107T>C	NP_009225.1:p.Tyr1703His
NM_007297.3:c.4966T>C	NP_009228.2:p.Tyr1656His
NM_007297.4:c.4966T>C	NP_009228.2:p.Tyr1656His
NM_007298.3:c.1795T>C	NP_009229.2:p.Tyr599His
NM_007299.3:c.1795T>C	NP_009230.2:p.Tyr599His
NM_007299.4:c.1795T>C	NP_009230.2:p.Tyr599His
NM_007300.3:c.5170T>C	NP_009231.2:p.Tyr1724His
NM_007300.4:c.5170T>C	NP_009231.2:p.Tyr1724His
NR_027676.1:n.5243T>C
NR_027676.2:n.5284T>C
ENST00000352993.7:c.1681T>C	ENSP00000312236.5:p.Tyr561His
ENST00000357654.7:c.5107T>C	ENSP00000350283.3:p.Tyr1703His
ENST00000461221.5:c.*4890T>C	ENSP00000418548.1:n.*4890T>C
ENST00000461574.2:c.5104T>C	ENSP00000417241.2:p.Tyr1702His
ENST00000468300.5:c.1795T>C	ENSP00000417148.1:p.Tyr599His
ENST00000470026.6:c.5107T>C	ENSP00000419274.2:p.Tyr1703His
ENST00000471181.6:c.5170T>C	ENSP00000418960.2:p.Tyr1724His
ENST00000471181.7:c.5170T>C	ENSP00000418960.2:p.Tyr1724His
ENST00000473961.6:c.4981T>C	ENSP00000420201.2:p.Tyr1661His
ENST00000476777.6:c.5101T>C	ENSP00000417554.2:p.Tyr1701His
ENST00000477152.6:c.5029T>C	ENSP00000419988.2:p.Tyr1677His
ENST00000478531.5:c.1795T>C	ENSP00000420412.1:p.Tyr599His
ENST00000478531.6:c.1795T>C	ENSP00000420412.2:p.Tyr599His
ENST00000484087.5:c.1420T>C	ENSP00000419481.1:p.Tyr474His
ENST00000484087.6:c.1669T>C	ENSP00000419481.2:p.Tyr557His
ENST00000489037.2:c.5029T>C	ENSP00000420781.2:p.Tyr1677His
ENST00000491747.6:c.1795T>C	ENSP00000420705.2:p.Tyr599His
ENST00000493795.5:c.4966T>C	ENSP00000418775.1:p.Tyr1656His
ENST00000493919.5:c.1657T>C	ENSP00000418819.1:p.Tyr553His
ENST00000493919.6:c.1657T>C	ENSP00000418819.2:p.Tyr553His
ENST00000494123.6:c.5107T>C	ENSP00000419103.2:p.Tyr1703His
ENST00000497488.2:c.4219T>C	ENSP00000418986.2:p.Tyr1407His
ENST00000586385.5:c.37T>C	ENSP00000465818.1:p.Tyr13His
ENST00000591534.5:c.580T>C	ENSP00000467329.1:p.Tyr194His
ENST00000591849.5:c.-98-13729T>C	ENSP00000465347.1:n.-98-13729T>C
ENST00000618469.2:c.5107T>C	ENSP00000478114.2:p.Tyr1703His
ENST00000634433.2:c.4984T>C	ENSP00000489431.2:p.Tyr1662His
ENST00000644379.1:c.1494T>C
ENST00000644379.2:c.5173T>C	ENSP00000496570.2:p.Tyr1725His
ENST00000644555.2:c.1657T>C	ENSP00000494614.2:p.Tyr553His
ENST00000652672.2:c.4966T>C	ENSP00000498906.2:p.Tyr1656His