Canonical Allele Identifier: CA10591671

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070989G>C , CM000679.2:g.43070989G>C	GRCh38
NC_000017.10:g.41223006G>C , CM000679.1:g.41223006G>C	GRCh37
NC_000017.9:g.38476532G>C	NCBI36
NG_005905.2:g.146995C>G , LRG_292:g.146995C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4925C>G MANE Select	NP_009225.1:p.Ser1642Ter
ENST00000357654.9:c.4925C>G MANE Select	ENSP00000350283.3:p.Ser1642Ter
NM_007294.3:c.4925C>G , LRG_292t1:c.4925C>G	NP_009225.1:p.Ser1642Ter
NM_007297.3:c.4784C>G	NP_009228.2:p.Ser1595Ter
NM_007297.4:c.4784C>G	NP_009228.2:p.Ser1595Ter
NM_007298.3:c.1613C>G	NP_009229.2:p.Ser538Ter
NM_007299.3:c.1613C>G	NP_009230.2:p.Ser538Ter
NM_007299.4:c.1613C>G	NP_009230.2:p.Ser538Ter
NM_007300.3:c.4988C>G	NP_009231.2:p.Ser1663Ter
NM_007300.4:c.4988C>G	NP_009231.2:p.Ser1663Ter
NR_027676.1:n.5061C>G
NR_027676.2:n.5102C>G
ENST00000352993.7:c.1499C>G	ENSP00000312236.5:p.Ser500Ter
ENST00000357654.7:c.4925C>G	ENSP00000350283.3:p.Ser1642Ter
ENST00000461221.5:c.*4708C>G	ENSP00000418548.1:n.*4708C>G
ENST00000461574.2:c.4922C>G	ENSP00000417241.2:p.Ser1641Ter
ENST00000468300.5:c.1613C>G	ENSP00000417148.1:p.Ser538Ter
ENST00000470026.6:c.4925C>G	ENSP00000419274.2:p.Ser1642Ter
ENST00000471181.6:c.4988C>G	ENSP00000418960.2:p.Ser1663Ter
ENST00000471181.7:c.4988C>G	ENSP00000418960.2:p.Ser1663Ter
ENST00000472490.1:n.78C>G
ENST00000473961.6:c.4799C>G	ENSP00000420201.2:p.Ser1600Ter
ENST00000476777.6:c.4919C>G	ENSP00000417554.2:p.Ser1640Ter
ENST00000477152.6:c.4847C>G	ENSP00000419988.2:p.Ser1616Ter
ENST00000478531.5:c.1613C>G	ENSP00000420412.1:p.Ser538Ter
ENST00000478531.6:c.1613C>G	ENSP00000420412.2:p.Ser538Ter
ENST00000484087.5:c.1238C>G	ENSP00000419481.1:p.Ser413Ter
ENST00000484087.6:c.1487C>G	ENSP00000419481.2:p.Ser496Ter
ENST00000489037.2:c.4847C>G	ENSP00000420781.2:p.Ser1616Ter
ENST00000491747.6:c.1613C>G	ENSP00000420705.2:p.Ser538Ter
ENST00000493795.5:c.4784C>G	ENSP00000418775.1:p.Ser1595Ter
ENST00000493919.5:c.1475C>G	ENSP00000418819.1:p.Ser492Ter
ENST00000493919.6:c.1475C>G	ENSP00000418819.2:p.Ser492Ter
ENST00000494123.6:c.4925C>G	ENSP00000419103.2:p.Ser1642Ter
ENST00000497488.2:c.4037C>G	ENSP00000418986.2:p.Ser1346Ter
ENST00000586385.5:c.5-7038C>G	ENSP00000465818.1:n.5-7038C>G
ENST00000591534.5:c.398C>G	ENSP00000467329.1:p.Ser133Ter
ENST00000591849.5:c.-98-20799C>G	ENSP00000465347.1:n.-98-20799C>G
ENST00000618469.2:c.4925C>G	ENSP00000478114.2:p.Ser1642Ter
ENST00000634433.2:c.4802C>G	ENSP00000489431.2:p.Ser1601Ter
ENST00000644379.1:c.1312C>G
ENST00000644379.2:c.4991C>G	ENSP00000496570.2:p.Ser1664Ter
ENST00000644555.2:c.1475C>G	ENSP00000494614.2:p.Ser492Ter
ENST00000652672.2:c.4784C>G	ENSP00000498906.2:p.Ser1595Ter
ENST00000700182.1:c.1532C>G	ENSP00000514849.1:p.Ser511Ter