Canonical Allele Identifier: CA10593468

Gene: BRCA1

Linked Data

• dbSNP Id: rs80356986
• MyVariant Identifiers: chr17:g.41243019G>A (hg19) ; chr17:g.43091002G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091002G>A , CM000679.2:g.43091002G>A	GRCh38
NC_000017.10:g.41243019G>A , CM000679.1:g.41243019G>A	GRCh37
NC_000017.9:g.38496545G>A	NCBI36
NG_005905.2:g.126982C>T , LRG_292:g.126982C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4127C>T	ENSP00000417241.2:p.Thr1376Ile
ENST00000470026.6:c.4127C>T	ENSP00000419274.2:p.Thr1376Ile
ENST00000473961.6:c.4001C>T	ENSP00000420201.2:p.Thr1334Ile
ENST00000476777.6:c.4124C>T	ENSP00000417554.2:p.Thr1375Ile
ENST00000477152.6:c.4049C>T	ENSP00000419988.2:p.Thr1350Ile
ENST00000478531.6:c.815C>T	ENSP00000420412.2:p.Thr272Ile
ENST00000489037.2:c.4049C>T	ENSP00000420781.2:p.Thr1350Ile
ENST00000493919.6:c.677C>T	ENSP00000418819.2:p.Thr226Ile
ENST00000494123.6:c.4127C>T	ENSP00000419103.2:p.Thr1376Ile
ENST00000497488.2:c.3239C>T	ENSP00000418986.2:p.Thr1080Ile
ENST00000618469.2:c.4127C>T	ENSP00000478114.2:p.Thr1376Ile
ENST00000634433.2:c.4004C>T	ENSP00000489431.2:p.Thr1335Ile
ENST00000644379.2:c.4127C>T	ENSP00000496570.2:p.Thr1376Ile
ENST00000644555.2:c.677C>T	ENSP00000494614.2:p.Thr226Ile
ENST00000652672.2:c.3986C>T	ENSP00000498906.2:p.Thr1329Ile
ENST00000484087.6:c.695C>T	ENSP00000419481.2:p.Thr232Ile
ENST00000700182.1:c.737C>T	ENSP00000514849.1:p.Thr246Ile
ENST00000357654.9:c.4127C>T MANE Select	ENSP00000350283.3:p.Thr1376Ile
ENST00000471181.7:c.4127C>T	ENSP00000418960.2:p.Thr1376Ile
ENST00000644379.1:c.448C>T
ENST00000352993.7:c.701C>T	ENSP00000312236.5:p.Thr234Ile
ENST00000357654.7:c.4127C>T	ENSP00000350283.3:p.Thr1376Ile
ENST00000461221.5:c.*3910C>T	ENSP00000418548.1:n.*3910C>T
ENST00000461574.1:c.421C>T
ENST00000468300.5:c.818C>T	ENSP00000417148.1:p.Thr273Ile
ENST00000471181.6:c.4127C>T	ENSP00000418960.2:p.Thr1376Ile
ENST00000478531.5:c.815C>T	ENSP00000420412.1:p.Thr272Ile
ENST00000484087.5:c.440C>T	ENSP00000419481.1:p.Thr147Ile
ENST00000487825.5:c.443C>T	ENSP00000418212.1:p.Thr148Ile
ENST00000491747.6:c.818C>T	ENSP00000420705.2:p.Thr273Ile
ENST00000493795.5:c.3986C>T	ENSP00000418775.1:p.Thr1329Ile
ENST00000493919.5:c.677C>T	ENSP00000418819.1:p.Thr226Ile
ENST00000586385.5:c.5-27051C>T	ENSP00000465818.1:n.5-27051C>T
ENST00000591534.5:c.-43-16481C>T	ENSP00000467329.1:n.-43-16481C>T
ENST00000591849.5:c.-99+34269C>T	ENSP00000465347.1:n.-99+34269C>T
NM_007294.3:c.4127C>T , LRG_292t1:c.4127C>T	NP_009225.1:p.Thr1376Ile
NM_007297.3:c.3986C>T	NP_009228.2:p.Thr1329Ile
NM_007298.3:c.818C>T	NP_009229.2:p.Thr273Ile
NM_007299.3:c.818C>T	NP_009230.2:p.Thr273Ile
NM_007300.3:c.4127C>T	NP_009231.2:p.Thr1376Ile
NR_027676.1:n.4263C>T
NM_007294.4:c.4127C>T MANE Select	NP_009225.1:p.Thr1376Ile
NM_007297.4:c.3986C>T	NP_009228.2:p.Thr1329Ile
NM_007299.4:c.818C>T	NP_009230.2:p.Thr273Ile
NM_007300.4:c.4127C>T	NP_009231.2:p.Thr1376Ile
NR_027676.2:n.4304C>T