Canonical Allele Identifier: CA10592804

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 863784
• ClinVar RCV Id: RCV001070834 ; RCV002327367
• dbSNP Id: rs2052745199
• MyVariant Identifiers: chr17:g.41228622G>A (hg19) ; chr17:g.43076605G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076605G>A , CM000679.2:g.43076605G>A	GRCh38
NC_000017.10:g.41228622G>A , CM000679.1:g.41228622G>A	GRCh37
NC_000017.9:g.38482148G>A	NCBI36
NG_005905.2:g.141379C>T , LRG_292:g.141379C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4364C>T	ENSP00000417241.2:p.Thr1455Ile
ENST00000470026.6:c.4367C>T	ENSP00000419274.2:p.Thr1456Ile
ENST00000473961.6:c.4241C>T	ENSP00000420201.2:p.Thr1414Ile
ENST00000476777.6:c.4361C>T	ENSP00000417554.2:p.Thr1454Ile
ENST00000477152.6:c.4289C>T	ENSP00000419988.2:p.Thr1430Ile
ENST00000478531.6:c.1055C>T	ENSP00000420412.2:p.Thr352Ile
ENST00000489037.2:c.4289C>T	ENSP00000420781.2:p.Thr1430Ile
ENST00000493919.6:c.917C>T	ENSP00000418819.2:p.Thr306Ile
ENST00000494123.6:c.4367C>T	ENSP00000419103.2:p.Thr1456Ile
ENST00000497488.2:c.3479C>T	ENSP00000418986.2:p.Thr1160Ile
ENST00000618469.2:c.4367C>T	ENSP00000478114.2:p.Thr1456Ile
ENST00000634433.2:c.4244C>T	ENSP00000489431.2:p.Thr1415Ile
ENST00000644379.2:c.4433C>T	ENSP00000496570.2:p.Thr1478Ile
ENST00000644555.2:c.917C>T	ENSP00000494614.2:p.Thr306Ile
ENST00000652672.2:c.4226C>T	ENSP00000498906.2:p.Thr1409Ile
ENST00000484087.6:c.929C>T	ENSP00000419481.2:p.Thr310Ile
ENST00000700182.1:c.974C>T	ENSP00000514849.1:p.Thr325Ile
ENST00000357654.9:c.4367C>T MANE Select	ENSP00000350283.3:p.Thr1456Ile
ENST00000471181.7:c.4430C>T	ENSP00000418960.2:p.Thr1477Ile
ENST00000644379.1:c.754C>T
ENST00000352993.7:c.941C>T	ENSP00000312236.5:p.Thr314Ile
ENST00000357654.7:c.4367C>T	ENSP00000350283.3:p.Thr1456Ile
ENST00000461221.5:c.*4150C>T	ENSP00000418548.1:n.*4150C>T
ENST00000461574.1:c.658C>T
ENST00000468300.5:c.1055C>T	ENSP00000417148.1:p.Thr352Ile
ENST00000471181.6:c.4430C>T	ENSP00000418960.2:p.Thr1477Ile
ENST00000478531.5:c.1055C>T	ENSP00000420412.1:p.Thr352Ile
ENST00000484087.5:c.680C>T	ENSP00000419481.1:p.Thr227Ile
ENST00000487825.5:c.683C>T	ENSP00000418212.1:p.Thr228Ile
ENST00000491747.6:c.1055C>T	ENSP00000420705.2:p.Thr352Ile
ENST00000493795.5:c.4226C>T	ENSP00000418775.1:p.Thr1409Ile
ENST00000493919.5:c.917C>T	ENSP00000418819.1:p.Thr306Ile
ENST00000586385.5:c.5-12654C>T	ENSP00000465818.1:n.5-12654C>T
ENST00000591534.5:c.-43-2084C>T	ENSP00000467329.1:n.-43-2084C>T
ENST00000591849.5:c.-98-26415C>T	ENSP00000465347.1:n.-98-26415C>T
ENST00000621897.1:n.258C>T
NM_007294.3:c.4367C>T , LRG_292t1:c.4367C>T	NP_009225.1:p.Thr1456Ile
NM_007297.3:c.4226C>T	NP_009228.2:p.Thr1409Ile
NM_007298.3:c.1055C>T	NP_009229.2:p.Thr352Ile
NM_007299.3:c.1055C>T	NP_009230.2:p.Thr352Ile
NM_007300.3:c.4430C>T	NP_009231.2:p.Thr1477Ile
NR_027676.1:n.4503C>T
NM_007294.4:c.4367C>T MANE Select	NP_009225.1:p.Thr1456Ile
NM_007297.4:c.4226C>T	NP_009228.2:p.Thr1409Ile
NM_007299.4:c.1055C>T	NP_009230.2:p.Thr352Ile
NM_007300.4:c.4430C>T	NP_009231.2:p.Thr1477Ile
NR_027676.2:n.4544C>T