Canonical Allele Identifier: CA10593329

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41234583T>A (hg19) ; chr17:g.43082566T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082566T>A , CM000679.2:g.43082566T>A	GRCh38
NC_000017.10:g.41234583T>A , CM000679.1:g.41234583T>A	GRCh37
NC_000017.9:g.38488109T>A	NCBI36
NG_005905.2:g.135418A>T , LRG_292:g.135418A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4195A>T	ENSP00000417241.2:p.Thr1399Ser
ENST00000470026.6:c.4195A>T	ENSP00000419274.2:p.Thr1399Ser
ENST00000473961.6:c.4069A>T	ENSP00000420201.2:p.Thr1357Ser
ENST00000476777.6:c.4189A>T	ENSP00000417554.2:p.Thr1397Ser
ENST00000477152.6:c.4117A>T	ENSP00000419988.2:p.Thr1373Ser
ENST00000478531.6:c.883A>T	ENSP00000420412.2:p.Thr295Ser
ENST00000489037.2:c.4117A>T	ENSP00000420781.2:p.Thr1373Ser
ENST00000493919.6:c.745A>T	ENSP00000418819.2:p.Thr249Ser
ENST00000494123.6:c.4195A>T	ENSP00000419103.2:p.Thr1399Ser
ENST00000497488.2:c.3307A>T	ENSP00000418986.2:p.Thr1103Ser
ENST00000618469.2:c.4195A>T	ENSP00000478114.2:p.Thr1399Ser
ENST00000634433.2:c.4072A>T	ENSP00000489431.2:p.Thr1358Ser
ENST00000644379.2:c.4195A>T	ENSP00000496570.2:p.Thr1399Ser
ENST00000644555.2:c.745A>T	ENSP00000494614.2:p.Thr249Ser
ENST00000652672.2:c.4054A>T	ENSP00000498906.2:p.Thr1352Ser
ENST00000484087.6:c.760A>T	ENSP00000419481.2:p.Thr254Ser
ENST00000700182.1:c.805A>T	ENSP00000514849.1:p.Thr269Ser
ENST00000357654.9:c.4195A>T MANE Select	ENSP00000350283.3:p.Thr1399Ser
ENST00000471181.7:c.4195A>T	ENSP00000418960.2:p.Thr1399Ser
ENST00000644379.1:c.516A>T
ENST00000352993.7:c.769A>T	ENSP00000312236.5:p.Thr257Ser
ENST00000357654.7:c.4195A>T	ENSP00000350283.3:p.Thr1399Ser
ENST00000461221.5:c.*3978A>T	ENSP00000418548.1:n.*3978A>T
ENST00000461574.1:c.489A>T
ENST00000468300.5:c.886A>T	ENSP00000417148.1:p.Thr296Ser
ENST00000471181.6:c.4195A>T	ENSP00000418960.2:p.Thr1399Ser
ENST00000478531.5:c.883A>T	ENSP00000420412.1:p.Thr295Ser
ENST00000484087.5:c.508A>T	ENSP00000419481.1:p.Thr170Ser
ENST00000487825.5:c.511A>T	ENSP00000418212.1:p.Thr171Ser
ENST00000491747.6:c.886A>T	ENSP00000420705.2:p.Thr296Ser
ENST00000493795.5:c.4054A>T	ENSP00000418775.1:p.Thr1352Ser
ENST00000493919.5:c.745A>T	ENSP00000418819.1:p.Thr249Ser
ENST00000586385.5:c.5-18615A>T	ENSP00000465818.1:n.5-18615A>T
ENST00000591534.5:c.-43-8045A>T	ENSP00000467329.1:n.-43-8045A>T
ENST00000591849.5:c.-98-32376A>T	ENSP00000465347.1:n.-98-32376A>T
ENST00000621897.1:n.89A>T
NM_007294.3:c.4195A>T , LRG_292t1:c.4195A>T	NP_009225.1:p.Thr1399Ser
NM_007297.3:c.4054A>T	NP_009228.2:p.Thr1352Ser
NM_007298.3:c.886A>T	NP_009229.2:p.Thr296Ser
NM_007299.3:c.886A>T	NP_009230.2:p.Thr296Ser
NM_007300.3:c.4195A>T	NP_009231.2:p.Thr1399Ser
NR_027676.1:n.4331A>T
NM_007294.4:c.4195A>T MANE Select	NP_009225.1:p.Thr1399Ser
NM_007297.4:c.4054A>T	NP_009228.2:p.Thr1352Ser
NM_007299.4:c.886A>T	NP_009230.2:p.Thr296Ser
NM_007300.4:c.4195A>T	NP_009231.2:p.Thr1399Ser
NR_027676.2:n.4372A>T