Canonical Allele Identifier: CA10590927

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051084G>A , CM000679.2:g.43051084G>A	GRCh38
NC_000017.10:g.41203101G>A , CM000679.1:g.41203101G>A	GRCh37
NC_000017.9:g.38456627G>A	NCBI36
NG_005905.2:g.166900C>T , LRG_292:g.166900C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5311C>T MANE Select	NP_009225.1:p.Pro1771Ser
ENST00000357654.9:c.5311C>T MANE Select	ENSP00000350283.3:p.Pro1771Ser
NM_007294.3:c.5311C>T , LRG_292t1:c.5311C>T	NP_009225.1:p.Pro1771Ser
NM_007297.3:c.5170C>T	NP_009228.2:p.Pro1724Ser
NM_007297.4:c.5170C>T	NP_009228.2:p.Pro1724Ser
NM_007298.3:c.1999C>T	NP_009229.2:p.Pro667Ser
NM_007299.3:c.1999C>T	NP_009230.2:p.Pro667Ser
NM_007299.4:c.1999C>T	NP_009230.2:p.Pro667Ser
NM_007300.3:c.5374C>T	NP_009231.2:p.Pro1792Ser
NM_007300.4:c.5374C>T	NP_009231.2:p.Pro1792Ser
NR_027676.1:n.5447C>T
NR_027676.2:n.5488C>T
ENST00000352993.7:c.1885C>T	ENSP00000312236.5:p.Pro629Ser
ENST00000357654.7:c.5311C>T	ENSP00000350283.3:p.Pro1771Ser
ENST00000461221.5:c.*5094C>T	ENSP00000418548.1:n.*5094C>T
ENST00000461574.2:c.5308C>T	ENSP00000417241.2:p.Pro1770Ser
ENST00000468300.5:c.1999C>T	ENSP00000417148.1:p.Pro667Ser
ENST00000470026.6:c.5311C>T	ENSP00000419274.2:p.Pro1771Ser
ENST00000471181.6:c.5374C>T	ENSP00000418960.2:p.Pro1792Ser
ENST00000471181.7:c.5374C>T	ENSP00000418960.2:p.Pro1792Ser
ENST00000473961.6:c.5185C>T	ENSP00000420201.2:p.Pro1729Ser
ENST00000476777.6:c.5305C>T	ENSP00000417554.2:p.Pro1769Ser
ENST00000477152.6:c.5233C>T	ENSP00000419988.2:p.Pro1745Ser
ENST00000478531.6:c.1999C>T	ENSP00000420412.2:p.Pro667Ser
ENST00000484087.6:c.1873C>T	ENSP00000419481.2:p.Pro625Ser
ENST00000489037.2:c.5233C>T	ENSP00000420781.2:p.Pro1745Ser
ENST00000491747.6:c.1999C>T	ENSP00000420705.2:p.Pro667Ser
ENST00000493795.5:c.5170C>T	ENSP00000418775.1:p.Pro1724Ser
ENST00000493919.6:c.1861C>T	ENSP00000418819.2:p.Pro621Ser
ENST00000494123.6:c.5311C>T	ENSP00000419103.2:p.Pro1771Ser
ENST00000497488.2:c.4423C>T	ENSP00000418986.2:p.Pro1475Ser
ENST00000586385.5:c.241C>T	ENSP00000465818.1:p.Pro81Ser
ENST00000591534.5:c.784C>T	ENSP00000467329.1:p.Pro262Ser
ENST00000591849.5:c.-98-894C>T	ENSP00000465347.1:n.-98-894C>T
ENST00000618469.2:c.5311C>T	ENSP00000478114.2:p.Pro1771Ser
ENST00000634433.2:c.5188C>T	ENSP00000489431.2:p.Pro1730Ser
ENST00000644379.1:c.1698C>T
ENST00000644379.2:c.5377C>T	ENSP00000496570.2:p.Pro1793Ser
ENST00000644555.2:c.1861C>T	ENSP00000494614.2:p.Pro621Ser
ENST00000652672.2:c.5170C>T	ENSP00000498906.2:p.Pro1724Ser