Canonical Allele Identifier: CA10591417

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067632T>A , CM000679.2:g.43067632T>A	GRCh38
NC_000017.10:g.41219649T>A , CM000679.1:g.41219649T>A	GRCh37
NC_000017.9:g.38473175T>A	NCBI36
NG_005905.2:g.150352A>T , LRG_292:g.150352A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5050A>T MANE Select	NP_009225.1:p.Thr1684Ser
ENST00000357654.9:c.5050A>T MANE Select	ENSP00000350283.3:p.Thr1684Ser
NM_007294.3:c.5050A>T , LRG_292t1:c.5050A>T	NP_009225.1:p.Thr1684Ser
NM_007297.3:c.4909A>T	NP_009228.2:p.Thr1637Ser
NM_007297.4:c.4909A>T	NP_009228.2:p.Thr1637Ser
NM_007298.3:c.1738A>T	NP_009229.2:p.Thr580Ser
NM_007299.3:c.1738A>T	NP_009230.2:p.Thr580Ser
NM_007299.4:c.1738A>T	NP_009230.2:p.Thr580Ser
NM_007300.3:c.5113A>T	NP_009231.2:p.Thr1705Ser
NM_007300.4:c.5113A>T	NP_009231.2:p.Thr1705Ser
NR_027676.1:n.5186A>T
NR_027676.2:n.5227A>T
ENST00000352993.7:c.1624A>T	ENSP00000312236.5:p.Thr542Ser
ENST00000357654.7:c.5050A>T	ENSP00000350283.3:p.Thr1684Ser
ENST00000461221.5:c.*4833A>T	ENSP00000418548.1:n.*4833A>T
ENST00000461574.2:c.5047A>T	ENSP00000417241.2:p.Thr1683Ser
ENST00000468300.5:c.1738A>T	ENSP00000417148.1:p.Thr580Ser
ENST00000470026.6:c.5050A>T	ENSP00000419274.2:p.Thr1684Ser
ENST00000471181.6:c.5113A>T	ENSP00000418960.2:p.Thr1705Ser
ENST00000471181.7:c.5113A>T	ENSP00000418960.2:p.Thr1705Ser
ENST00000472490.1:n.203A>T
ENST00000473961.6:c.4924A>T	ENSP00000420201.2:p.Thr1642Ser
ENST00000476777.6:c.5044A>T	ENSP00000417554.2:p.Thr1682Ser
ENST00000477152.6:c.4972A>T	ENSP00000419988.2:p.Thr1658Ser
ENST00000478531.5:c.1738A>T	ENSP00000420412.1:p.Thr580Ser
ENST00000478531.6:c.1738A>T	ENSP00000420412.2:p.Thr580Ser
ENST00000484087.5:c.1363A>T	ENSP00000419481.1:p.Thr455Ser
ENST00000484087.6:c.1612A>T	ENSP00000419481.2:p.Thr538Ser
ENST00000489037.2:c.4972A>T	ENSP00000420781.2:p.Thr1658Ser
ENST00000491747.6:c.1738A>T	ENSP00000420705.2:p.Thr580Ser
ENST00000493795.5:c.4909A>T	ENSP00000418775.1:p.Thr1637Ser
ENST00000493919.5:c.1600A>T	ENSP00000418819.1:p.Thr534Ser
ENST00000493919.6:c.1600A>T	ENSP00000418819.2:p.Thr534Ser
ENST00000494123.6:c.5050A>T	ENSP00000419103.2:p.Thr1684Ser
ENST00000497488.2:c.4162A>T	ENSP00000418986.2:p.Thr1388Ser
ENST00000586385.5:c.5-3681A>T	ENSP00000465818.1:n.5-3681A>T
ENST00000591534.5:c.523A>T	ENSP00000467329.1:p.Thr175Ser
ENST00000591849.5:c.-98-17442A>T	ENSP00000465347.1:n.-98-17442A>T
ENST00000618469.2:c.5050A>T	ENSP00000478114.2:p.Thr1684Ser
ENST00000634433.2:c.4927A>T	ENSP00000489431.2:p.Thr1643Ser
ENST00000644379.1:c.1437A>T
ENST00000644379.2:c.5116A>T	ENSP00000496570.2:p.Thr1706Ser
ENST00000644555.2:c.1600A>T	ENSP00000494614.2:p.Thr534Ser
ENST00000652672.2:c.4909A>T	ENSP00000498906.2:p.Thr1637Ser