Canonical Allele Identifier: CA10591952

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071133G>A , CM000679.2:g.43071133G>A	GRCh38
NC_000017.10:g.41223150G>A , CM000679.1:g.41223150G>A	GRCh37
NC_000017.9:g.38476676G>A	NCBI36
NG_005905.2:g.146851C>T , LRG_292:g.146851C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4781C>T MANE Select	NP_009225.1:p.Pro1594Leu
ENST00000357654.9:c.4781C>T MANE Select	ENSP00000350283.3:p.Pro1594Leu
NM_007294.3:c.4781C>T , LRG_292t1:c.4781C>T	NP_009225.1:p.Pro1594Leu
NM_007297.3:c.4640C>T	NP_009228.2:p.Pro1547Leu
NM_007297.4:c.4640C>T	NP_009228.2:p.Pro1547Leu
NM_007298.3:c.1469C>T	NP_009229.2:p.Pro490Leu
NM_007299.3:c.1469C>T	NP_009230.2:p.Pro490Leu
NM_007299.4:c.1469C>T	NP_009230.2:p.Pro490Leu
NM_007300.3:c.4844C>T	NP_009231.2:p.Pro1615Leu
NM_007300.4:c.4844C>T	NP_009231.2:p.Pro1615Leu
NR_027676.1:n.4917C>T
NR_027676.2:n.4958C>T
ENST00000352993.7:c.1355C>T	ENSP00000312236.5:p.Pro452Leu
ENST00000357654.7:c.4781C>T	ENSP00000350283.3:p.Pro1594Leu
ENST00000461221.5:c.*4564C>T	ENSP00000418548.1:n.*4564C>T
ENST00000461574.2:c.4778C>T	ENSP00000417241.2:p.Pro1593Leu
ENST00000468300.5:c.1469C>T	ENSP00000417148.1:p.Pro490Leu
ENST00000470026.6:c.4781C>T	ENSP00000419274.2:p.Pro1594Leu
ENST00000471181.6:c.4844C>T	ENSP00000418960.2:p.Pro1615Leu
ENST00000471181.7:c.4844C>T	ENSP00000418960.2:p.Pro1615Leu
ENST00000473961.6:c.4655C>T	ENSP00000420201.2:p.Pro1552Leu
ENST00000476777.6:c.4775C>T	ENSP00000417554.2:p.Pro1592Leu
ENST00000477152.6:c.4703C>T	ENSP00000419988.2:p.Pro1568Leu
ENST00000478531.5:c.1469C>T	ENSP00000420412.1:p.Pro490Leu
ENST00000478531.6:c.1469C>T	ENSP00000420412.2:p.Pro490Leu
ENST00000484087.5:c.1094C>T	ENSP00000419481.1:p.Pro365Leu
ENST00000484087.6:c.1343C>T	ENSP00000419481.2:p.Pro448Leu
ENST00000489037.2:c.4703C>T	ENSP00000420781.2:p.Pro1568Leu
ENST00000491747.6:c.1469C>T	ENSP00000420705.2:p.Pro490Leu
ENST00000493795.5:c.4640C>T	ENSP00000418775.1:p.Pro1547Leu
ENST00000493919.5:c.1331C>T	ENSP00000418819.1:p.Pro444Leu
ENST00000493919.6:c.1331C>T	ENSP00000418819.2:p.Pro444Leu
ENST00000494123.6:c.4781C>T	ENSP00000419103.2:p.Pro1594Leu
ENST00000497488.2:c.3893C>T	ENSP00000418986.2:p.Pro1298Leu
ENST00000586385.5:c.5-7182C>T	ENSP00000465818.1:n.5-7182C>T
ENST00000591534.5:c.254C>T	ENSP00000467329.1:p.Pro85Leu
ENST00000591849.5:c.-98-20943C>T	ENSP00000465347.1:n.-98-20943C>T
ENST00000618469.2:c.4781C>T	ENSP00000478114.2:p.Pro1594Leu
ENST00000634433.2:c.4658C>T	ENSP00000489431.2:p.Pro1553Leu
ENST00000644379.1:c.1168C>T
ENST00000644379.2:c.4847C>T	ENSP00000496570.2:p.Pro1616Leu
ENST00000644555.2:c.1331C>T	ENSP00000494614.2:p.Pro444Leu
ENST00000652672.2:c.4640C>T	ENSP00000498906.2:p.Pro1547Leu
ENST00000700182.1:c.1388C>T	ENSP00000514849.1:p.Pro463Leu