Canonical Allele Identifier: CA10591778

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071039A>C , CM000679.2:g.43071039A>C	GRCh38
NC_000017.10:g.41223056A>C , CM000679.1:g.41223056A>C	GRCh37
NC_000017.9:g.38476582A>C	NCBI36
NG_005905.2:g.146945T>G , LRG_292:g.146945T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4875T>G MANE Select	NP_009225.1:p.Tyr1625Ter
ENST00000357654.9:c.4875T>G MANE Select	ENSP00000350283.3:p.Tyr1625Ter
NM_007294.3:c.4875T>G , LRG_292t1:c.4875T>G	NP_009225.1:p.Tyr1625Ter
NM_007297.3:c.4734T>G	NP_009228.2:p.Tyr1578Ter
NM_007297.4:c.4734T>G	NP_009228.2:p.Tyr1578Ter
NM_007298.3:c.1563T>G	NP_009229.2:p.Tyr521Ter
NM_007299.3:c.1563T>G	NP_009230.2:p.Tyr521Ter
NM_007299.4:c.1563T>G	NP_009230.2:p.Tyr521Ter
NM_007300.3:c.4938T>G	NP_009231.2:p.Tyr1646Ter
NM_007300.4:c.4938T>G	NP_009231.2:p.Tyr1646Ter
NR_027676.1:n.5011T>G
NR_027676.2:n.5052T>G
ENST00000352993.7:c.1449T>G	ENSP00000312236.5:p.Tyr483Ter
ENST00000357654.7:c.4875T>G	ENSP00000350283.3:p.Tyr1625Ter
ENST00000461221.5:c.*4658T>G	ENSP00000418548.1:n.*4658T>G
ENST00000461574.2:c.4872T>G	ENSP00000417241.2:p.Tyr1624Ter
ENST00000468300.5:c.1563T>G	ENSP00000417148.1:p.Tyr521Ter
ENST00000470026.6:c.4875T>G	ENSP00000419274.2:p.Tyr1625Ter
ENST00000471181.6:c.4938T>G	ENSP00000418960.2:p.Tyr1646Ter
ENST00000471181.7:c.4938T>G	ENSP00000418960.2:p.Tyr1646Ter
ENST00000472490.1:n.28T>G
ENST00000473961.6:c.4749T>G	ENSP00000420201.2:p.Tyr1583Ter
ENST00000476777.6:c.4869T>G	ENSP00000417554.2:p.Tyr1623Ter
ENST00000477152.6:c.4797T>G	ENSP00000419988.2:p.Tyr1599Ter
ENST00000478531.5:c.1563T>G	ENSP00000420412.1:p.Tyr521Ter
ENST00000478531.6:c.1563T>G	ENSP00000420412.2:p.Tyr521Ter
ENST00000484087.5:c.1188T>G	ENSP00000419481.1:p.Tyr396Ter
ENST00000484087.6:c.1437T>G	ENSP00000419481.2:p.Tyr479Ter
ENST00000489037.2:c.4797T>G	ENSP00000420781.2:p.Tyr1599Ter
ENST00000491747.6:c.1563T>G	ENSP00000420705.2:p.Tyr521Ter
ENST00000493795.5:c.4734T>G	ENSP00000418775.1:p.Tyr1578Ter
ENST00000493919.5:c.1425T>G	ENSP00000418819.1:p.Tyr475Ter
ENST00000493919.6:c.1425T>G	ENSP00000418819.2:p.Tyr475Ter
ENST00000494123.6:c.4875T>G	ENSP00000419103.2:p.Tyr1625Ter
ENST00000497488.2:c.3987T>G	ENSP00000418986.2:p.Tyr1329Ter
ENST00000586385.5:c.5-7088T>G	ENSP00000465818.1:n.5-7088T>G
ENST00000591534.5:c.348T>G	ENSP00000467329.1:p.Tyr116Ter
ENST00000591849.5:c.-98-20849T>G	ENSP00000465347.1:n.-98-20849T>G
ENST00000618469.2:c.4875T>G	ENSP00000478114.2:p.Tyr1625Ter
ENST00000634433.2:c.4752T>G	ENSP00000489431.2:p.Tyr1584Ter
ENST00000644379.1:c.1262T>G
ENST00000644379.2:c.4941T>G	ENSP00000496570.2:p.Tyr1647Ter
ENST00000644555.2:c.1425T>G	ENSP00000494614.2:p.Tyr475Ter
ENST00000652672.2:c.4734T>G	ENSP00000498906.2:p.Tyr1578Ter
ENST00000700182.1:c.1482T>G	ENSP00000514849.1:p.Tyr494Ter