Canonical Allele Identifier: CA003467

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051083G>A , CM000679.2:g.43051083G>A	GRCh38
NC_000017.10:g.41203100G>A , CM000679.1:g.41203100G>A	GRCh37
NC_000017.9:g.38456626G>A	NCBI36
NG_005905.2:g.166901C>T , LRG_292:g.166901C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5312C>T MANE Select	NP_009225.1:p.Pro1771Leu
ENST00000357654.9:c.5312C>T MANE Select	ENSP00000350283.3:p.Pro1771Leu
NM_007294.3:c.5312C>T , LRG_292t1:c.5312C>T	NP_009225.1:p.Pro1771Leu
NM_007297.3:c.5171C>T	NP_009228.2:p.Pro1724Leu
NM_007297.4:c.5171C>T	NP_009228.2:p.Pro1724Leu
NM_007298.3:c.2000C>T	NP_009229.2:p.Pro667Leu
NM_007299.3:c.2000C>T	NP_009230.2:p.Pro667Leu
NM_007299.4:c.2000C>T	NP_009230.2:p.Pro667Leu
NM_007300.3:c.5375C>T	NP_009231.2:p.Pro1792Leu
NM_007300.4:c.5375C>T	NP_009231.2:p.Pro1792Leu
NR_027676.1:n.5448C>T
NR_027676.2:n.5489C>T
ENST00000352993.7:c.1886C>T	ENSP00000312236.5:p.Pro629Leu
ENST00000357654.7:c.5312C>T	ENSP00000350283.3:p.Pro1771Leu
ENST00000461221.5:c.*5095C>T	ENSP00000418548.1:n.*5095C>T
ENST00000461574.2:c.5309C>T	ENSP00000417241.2:p.Pro1770Leu
ENST00000468300.5:c.2000C>T	ENSP00000417148.1:p.Pro667Leu
ENST00000470026.6:c.5312C>T	ENSP00000419274.2:p.Pro1771Leu
ENST00000471181.6:c.5375C>T	ENSP00000418960.2:p.Pro1792Leu
ENST00000471181.7:c.5375C>T	ENSP00000418960.2:p.Pro1792Leu
ENST00000473961.6:c.5186C>T	ENSP00000420201.2:p.Pro1729Leu
ENST00000476777.6:c.5306C>T	ENSP00000417554.2:p.Pro1769Leu
ENST00000477152.6:c.5234C>T	ENSP00000419988.2:p.Pro1745Leu
ENST00000478531.6:c.2000C>T	ENSP00000420412.2:p.Pro667Leu
ENST00000484087.6:c.1874C>T	ENSP00000419481.2:p.Pro625Leu
ENST00000489037.2:c.5234C>T	ENSP00000420781.2:p.Pro1745Leu
ENST00000491747.6:c.2000C>T	ENSP00000420705.2:p.Pro667Leu
ENST00000493795.5:c.5171C>T	ENSP00000418775.1:p.Pro1724Leu
ENST00000493919.6:c.1862C>T	ENSP00000418819.2:p.Pro621Leu
ENST00000494123.6:c.5312C>T	ENSP00000419103.2:p.Pro1771Leu
ENST00000497488.2:c.4424C>T	ENSP00000418986.2:p.Pro1475Leu
ENST00000586385.5:c.242C>T	ENSP00000465818.1:p.Pro81Leu
ENST00000591534.5:c.785C>T	ENSP00000467329.1:p.Pro262Leu
ENST00000591849.5:c.-98-893C>T	ENSP00000465347.1:n.-98-893C>T
ENST00000618469.2:c.5312C>T	ENSP00000478114.2:p.Pro1771Leu
ENST00000634433.2:c.5189C>T	ENSP00000489431.2:p.Pro1730Leu
ENST00000644379.1:c.1699C>T
ENST00000644379.2:c.5378C>T	ENSP00000496570.2:p.Pro1793Leu
ENST00000644555.2:c.1862C>T	ENSP00000494614.2:p.Pro621Leu
ENST00000652672.2:c.5171C>T	ENSP00000498906.2:p.Pro1724Leu