Canonical Allele Identifier: CA916079409

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.[43049164C>T;43049168A>T] , CM000679.2:g.[43049164C>T;43049168A>T]	GRCh38
NC_000017.10:g.[41201181C>T;41201185A>T] , CM000679.1:g.[41201181C>T;41201185A>T]	GRCh37
NC_000017.9:g.[38454707C>T;38454711A>T]	NCBI36
NG_005905.2:g.[168816T>A;168820G>A] , LRG_292:g.[168816T>A;168820G>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.[5356T>A;5360G>A]	ENSP00000417241.2:p.[Cys1786Ser;Gly1787Asp]
ENST00000470026.6:c.[5359T>A;5363G>A]	ENSP00000419274.2:p.[Cys1787Ser;Gly1788Asp]
ENST00000473961.6:c.[5233T>A;5237G>A]	ENSP00000420201.2:p.[Cys1745Ser;Gly1746Asp]
ENST00000476777.6:c.[5353T>A;5357G>A]	ENSP00000417554.2:p.[Cys1785Ser;Gly1786Asp]
ENST00000477152.6:c.[5281T>A;5285G>A]	ENSP00000419988.2:p.[Cys1761Ser;Gly1762Asp]
ENST00000478531.6:c.[2047T>A;2051G>A]	ENSP00000420412.2:p.[Cys683Ser;Gly684Asp]
ENST00000489037.2:c.[5281T>A;5285G>A]	ENSP00000420781.2:p.[Cys1761Ser;Gly1762Asp]
ENST00000493919.6:c.[1909T>A;1913G>A]	ENSP00000418819.2:p.[Cys637Ser;Gly638Asp]
ENST00000494123.6:c.[5359T>A;5363G>A]	ENSP00000419103.2:p.[Cys1787Ser;Gly1788Asp]
ENST00000497488.2:c.[4471T>A;4475G>A]	ENSP00000418986.2:p.[Cys1491Ser;Gly1492Asp]
ENST00000618469.2:c.[5359T>A;5363G>A]	ENSP00000478114.2:p.[Cys1787Ser;Gly1788Asp]
ENST00000634433.2:c.[5236T>A;5240G>A]	ENSP00000489431.2:p.[Cys1746Ser;Gly1747Asp]
ENST00000644379.2:c.[5425T>A;5429G>A]	ENSP00000496570.2:p.[Cys1809Ser;Gly1810Asp]
ENST00000644555.2:c.[1909T>A;1913G>A]	ENSP00000494614.2:p.[Cys637Ser;Gly638Asp]
ENST00000652672.2:c.[5218T>A;5222G>A]	ENSP00000498906.2:p.[Cys1740Ser;Gly1741Asp]
ENST00000484087.6:c.[1921T>A;1925G>A]	ENSP00000419481.2:p.[Cys641Ser;Gly642Asp]
ENST00000700081.1:n.[1242T>A;1246G>A]
ENST00000357654.9:c.[5359T>A;5363G>A] MANE Select	ENSP00000350283.3:p.[Cys1787Ser;Gly1788Asp]
ENST00000471181.7:c.[5422T>A;5426G>A]	ENSP00000418960.2:p.[Cys1808Ser;Gly1809Asp]
ENST00000644379.1:c.[1746T>A;1750G>A]
ENST00000352993.7:c.[1933T>A;1937G>A]	ENSP00000312236.5:p.[Cys645Ser;Gly646Asp]
ENST00000357654.7:c.[5359T>A;5363G>A]	ENSP00000350283.3:p.[Cys1787Ser;Gly1788Asp]
ENST00000461221.5:c.[*5142T>A;*5146G>A]	ENSP00000418548.1:n.[*5142T>A;*5146G>A]
ENST00000468300.5:c.[2021-1465T>A;2021-1461G>A]	ENSP00000417148.1:n.[2021-1465T>A;2021-1461G>A]
ENST00000471181.6:c.[5422T>A;5426G>A]	ENSP00000418960.2:p.[Cys1808Ser;Gly1809Asp]
ENST00000491747.6:c.[2047T>A;2051G>A]	ENSP00000420705.2:p.[Cys683Ser;Gly684Asp]
ENST00000493795.5:c.[5218T>A;5222G>A]	ENSP00000418775.1:p.[Cys1740Ser;Gly1741Asp]
ENST00000586385.5:c.[289T>A;293G>A]	ENSP00000465818.1:p.[Cys97Ser;Gly98Asp]
ENST00000591534.5:c.[832T>A;836G>A]	ENSP00000467329.1:p.[Cys278Ser;Gly279Asp]
ENST00000591849.5:c.[58T>A;62G>A]	ENSP00000465347.1:p.[Cys20Ser;Gly21Asp]
NM_007294.3:c.[5359T>A;5363G>A] , LRG_292t1:c.[5359T>A;5363G>A]	NP_009225.1:p.[Cys1787Ser;Gly1788Asp]
NM_007297.3:c.[5218T>A;5222G>A]	NP_009228.2:p.[Cys1740Ser;Gly1741Asp]
NM_007298.3:c.[2047T>A;2051G>A]	NP_009229.2:p.[Cys683Ser;Gly684Asp]
NM_007299.3:c.[2021-1465T>A;2021-1461G>A]	NP_009230.2:n.[2021-1465T>A;2021-1461G>A]
NM_007300.3:c.[5422T>A;5426G>A]	NP_009231.2:p.[Cys1808Ser;Gly1809Asp]
NR_027676.1:n.[5495T>A;5499G>A]
NM_007294.4:c.[5359T>A;5363G>A] MANE Select	NP_009225.1:p.[Cys1787Ser;Gly1788Asp]
NM_007297.4:c.[5218T>A;5222G>A]	NP_009228.2:p.[Cys1740Ser;Gly1741Asp]
NM_007299.4:c.[2021-1465T>A;2021-1461G>A]	NP_009230.2:n.[2021-1465T>A;2021-1461G>A]
NM_007300.4:c.[5422T>A;5426G>A]	NP_009231.2:p.[Cys1808Ser;Gly1809Asp]
NR_027676.2:n.[5536T>A;5540G>A]