Canonical Allele Identifier: CA10591616

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070960T>G , CM000679.2:g.43070960T>G	GRCh38
NC_000017.10:g.41222977T>G , CM000679.1:g.41222977T>G	GRCh37
NC_000017.9:g.38476503T>G	NCBI36
NG_005905.2:g.147024A>C , LRG_292:g.147024A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4954A>C MANE Select	NP_009225.1:p.Met1652Leu
ENST00000357654.9:c.4954A>C MANE Select	ENSP00000350283.3:p.Met1652Leu
NM_007294.3:c.4954A>C , LRG_292t1:c.4954A>C	NP_009225.1:p.Met1652Leu
NM_007297.3:c.4813A>C	NP_009228.2:p.Met1605Leu
NM_007297.4:c.4813A>C	NP_009228.2:p.Met1605Leu
NM_007298.3:c.1642A>C	NP_009229.2:p.Met548Leu
NM_007299.3:c.1642A>C	NP_009230.2:p.Met548Leu
NM_007299.4:c.1642A>C	NP_009230.2:p.Met548Leu
NM_007300.3:c.5017A>C	NP_009231.2:p.Met1673Leu
NM_007300.4:c.5017A>C	NP_009231.2:p.Met1673Leu
NR_027676.1:n.5090A>C
NR_027676.2:n.5131A>C
ENST00000352993.7:c.1528A>C	ENSP00000312236.5:p.Met510Leu
ENST00000357654.7:c.4954A>C	ENSP00000350283.3:p.Met1652Leu
ENST00000461221.5:c.*4737A>C	ENSP00000418548.1:n.*4737A>C
ENST00000461574.2:c.4951A>C	ENSP00000417241.2:p.Met1651Leu
ENST00000468300.5:c.1642A>C	ENSP00000417148.1:p.Met548Leu
ENST00000470026.6:c.4954A>C	ENSP00000419274.2:p.Met1652Leu
ENST00000471181.6:c.5017A>C	ENSP00000418960.2:p.Met1673Leu
ENST00000471181.7:c.5017A>C	ENSP00000418960.2:p.Met1673Leu
ENST00000472490.1:n.107A>C
ENST00000473961.6:c.4828A>C	ENSP00000420201.2:p.Met1610Leu
ENST00000476777.6:c.4948A>C	ENSP00000417554.2:p.Met1650Leu
ENST00000477152.6:c.4876A>C	ENSP00000419988.2:p.Met1626Leu
ENST00000478531.5:c.1642A>C	ENSP00000420412.1:p.Met548Leu
ENST00000478531.6:c.1642A>C	ENSP00000420412.2:p.Met548Leu
ENST00000484087.5:c.1267A>C	ENSP00000419481.1:p.Met423Leu
ENST00000484087.6:c.1516A>C	ENSP00000419481.2:p.Met506Leu
ENST00000489037.2:c.4876A>C	ENSP00000420781.2:p.Met1626Leu
ENST00000491747.6:c.1642A>C	ENSP00000420705.2:p.Met548Leu
ENST00000493795.5:c.4813A>C	ENSP00000418775.1:p.Met1605Leu
ENST00000493919.5:c.1504A>C	ENSP00000418819.1:p.Met502Leu
ENST00000493919.6:c.1504A>C	ENSP00000418819.2:p.Met502Leu
ENST00000494123.6:c.4954A>C	ENSP00000419103.2:p.Met1652Leu
ENST00000497488.2:c.4066A>C	ENSP00000418986.2:p.Met1356Leu
ENST00000586385.5:c.5-7009A>C	ENSP00000465818.1:n.5-7009A>C
ENST00000591534.5:c.427A>C	ENSP00000467329.1:p.Met143Leu
ENST00000591849.5:c.-98-20770A>C	ENSP00000465347.1:n.-98-20770A>C
ENST00000618469.2:c.4954A>C	ENSP00000478114.2:p.Met1652Leu
ENST00000634433.2:c.4831A>C	ENSP00000489431.2:p.Met1611Leu
ENST00000644379.1:c.1341A>C
ENST00000644379.2:c.5020A>C	ENSP00000496570.2:p.Met1674Leu
ENST00000644555.2:c.1504A>C	ENSP00000494614.2:p.Met502Leu
ENST00000652672.2:c.4813A>C	ENSP00000498906.2:p.Met1605Leu
ENST00000700182.1:c.1561A>C	ENSP00000514849.1:p.Met521Leu