Canonical Allele Identifier: CA10590624

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047694G>A , CM000679.2:g.43047694G>A	GRCh38
NC_000017.10:g.41199711G>A , CM000679.1:g.41199711G>A	GRCh37
NC_000017.9:g.38453237G>A	NCBI36
NG_005905.2:g.170290C>T , LRG_292:g.170290C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5416C>T MANE Select	NP_009225.1:p.Pro1806Ser
ENST00000357654.9:c.5416C>T MANE Select	ENSP00000350283.3:p.Pro1806Ser
NM_007294.3:c.5416C>T , LRG_292t1:c.5416C>T	NP_009225.1:p.Pro1806Ser
NM_007297.3:c.5275C>T	NP_009228.2:p.Pro1759Ser
NM_007297.4:c.5275C>T	NP_009228.2:p.Pro1759Ser
NM_007298.3:c.2104C>T	NP_009229.2:p.Pro702Ser
NM_007299.3:c.2030C>T	NP_009230.2:p.Pro677Leu
NM_007299.4:c.2030C>T	NP_009230.2:p.Pro677Leu
NM_007300.3:c.5479C>T	NP_009231.2:p.Pro1827Ser
NM_007300.4:c.5479C>T	NP_009231.2:p.Pro1827Ser
NR_027676.1:n.5552C>T
NR_027676.2:n.5593C>T
ENST00000352993.7:c.1990C>T	ENSP00000312236.5:p.Pro664Ser
ENST00000357654.7:c.5416C>T	ENSP00000350283.3:p.Pro1806Ser
ENST00000461221.5:c.*5199C>T	ENSP00000418548.1:n.*5199C>T
ENST00000461574.2:c.5413C>T	ENSP00000417241.2:p.Pro1805Ser
ENST00000468300.5:c.2030C>T	ENSP00000417148.1:p.Pro677Leu
ENST00000470026.6:c.5416C>T	ENSP00000419274.2:p.Pro1806Ser
ENST00000471181.6:c.5479C>T	ENSP00000418960.2:p.Pro1827Ser
ENST00000471181.7:c.5479C>T	ENSP00000418960.2:p.Pro1827Ser
ENST00000473961.6:c.5290C>T	ENSP00000420201.2:p.Pro1764Ser
ENST00000476777.6:c.5410C>T	ENSP00000417554.2:p.Pro1804Ser
ENST00000477152.6:c.5338C>T	ENSP00000419988.2:p.Pro1780Ser
ENST00000478531.6:c.2104C>T	ENSP00000420412.2:p.Pro702Ser
ENST00000484087.6:c.1978C>T	ENSP00000419481.2:p.Pro660Ser
ENST00000489037.2:c.5338C>T	ENSP00000420781.2:p.Pro1780Ser
ENST00000491747.6:c.2104C>T	ENSP00000420705.2:p.Pro702Ser
ENST00000493795.5:c.5275C>T	ENSP00000418775.1:p.Pro1759Ser
ENST00000493919.6:c.1966C>T	ENSP00000418819.2:p.Pro656Ser
ENST00000494123.6:c.5416C>T	ENSP00000419103.2:p.Pro1806Ser
ENST00000497488.2:c.4528C>T	ENSP00000418986.2:p.Pro1510Ser
ENST00000586385.5:c.346C>T	ENSP00000465818.1:p.Pro116Ser
ENST00000591534.5:c.889C>T	ENSP00000467329.1:p.Pro297Ser
ENST00000591849.5:c.115C>T	ENSP00000465347.1:p.Pro39Ser
ENST00000618469.2:c.5416C>T	ENSP00000478114.2:p.Pro1806Ser
ENST00000634433.2:c.5293C>T	ENSP00000489431.2:p.Pro1765Ser
ENST00000644379.1:c.1803C>T
ENST00000644379.2:c.5482C>T	ENSP00000496570.2:p.Pro1828Ser
ENST00000644555.2:c.1966C>T	ENSP00000494614.2:p.Pro656Ser
ENST00000652672.2:c.5275C>T	ENSP00000498906.2:p.Pro1759Ser
ENST00000700081.1:n.1299C>T
ENST00000700082.1:n.780C>T