Canonical Allele Identifier: CA10590669

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868052
• ClinVar RCV Id: RCV001076871
• dbSNP Id: rs1555575080
• MyVariant Identifiers: chr17:g.41201140T>A (hg19) ; chr17:g.43049123T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049123T>A , CM000679.2:g.43049123T>A	GRCh38
NC_000017.10:g.41201140T>A , CM000679.1:g.41201140T>A	GRCh37
NC_000017.9:g.38454666T>A	NCBI36
NG_005905.2:g.168861A>T , LRG_292:g.168861A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5401A>T	ENSP00000417241.2:p.Thr1801Ser
ENST00000470026.6:c.5404A>T	ENSP00000419274.2:p.Thr1802Ser
ENST00000473961.6:c.5278A>T	ENSP00000420201.2:p.Thr1760Ser
ENST00000476777.6:c.5398A>T	ENSP00000417554.2:p.Thr1800Ser
ENST00000477152.6:c.5326A>T	ENSP00000419988.2:p.Thr1776Ser
ENST00000478531.6:c.2092A>T	ENSP00000420412.2:p.Thr698Ser
ENST00000489037.2:c.5326A>T	ENSP00000420781.2:p.Thr1776Ser
ENST00000493919.6:c.1954A>T	ENSP00000418819.2:p.Thr652Ser
ENST00000494123.6:c.5404A>T	ENSP00000419103.2:p.Thr1802Ser
ENST00000497488.2:c.4516A>T	ENSP00000418986.2:p.Thr1506Ser
ENST00000618469.2:c.5404A>T	ENSP00000478114.2:p.Thr1802Ser
ENST00000634433.2:c.5281A>T	ENSP00000489431.2:p.Thr1761Ser
ENST00000644379.2:c.5470A>T	ENSP00000496570.2:p.Thr1824Ser
ENST00000644555.2:c.1954A>T	ENSP00000494614.2:p.Thr652Ser
ENST00000652672.2:c.5263A>T	ENSP00000498906.2:p.Thr1755Ser
ENST00000484087.6:c.1966A>T	ENSP00000419481.2:p.Thr656Ser
ENST00000700081.1:n.1287A>T
ENST00000357654.9:c.5404A>T MANE Select	ENSP00000350283.3:p.Thr1802Ser
ENST00000471181.7:c.5467A>T	ENSP00000418960.2:p.Thr1823Ser
ENST00000644379.1:c.1791A>T
ENST00000352993.7:c.1978A>T	ENSP00000312236.5:p.Thr660Ser
ENST00000357654.7:c.5404A>T	ENSP00000350283.3:p.Thr1802Ser
ENST00000461221.5:c.*5187A>T	ENSP00000418548.1:n.*5187A>T
ENST00000468300.5:c.2021-1420A>T	ENSP00000417148.1:n.2021-1420A>T
ENST00000471181.6:c.5467A>T	ENSP00000418960.2:p.Thr1823Ser
ENST00000491747.6:c.2092A>T	ENSP00000420705.2:p.Thr698Ser
ENST00000493795.5:c.5263A>T	ENSP00000418775.1:p.Thr1755Ser
ENST00000586385.5:c.334A>T	ENSP00000465818.1:p.Thr112Ser
ENST00000591534.5:c.877A>T	ENSP00000467329.1:p.Thr293Ser
ENST00000591849.5:c.103A>T	ENSP00000465347.1:p.Thr35Ser
NM_007294.3:c.5404A>T , LRG_292t1:c.5404A>T	NP_009225.1:p.Thr1802Ser
NM_007297.3:c.5263A>T	NP_009228.2:p.Thr1755Ser
NM_007298.3:c.2092A>T	NP_009229.2:p.Thr698Ser
NM_007299.3:c.2021-1420A>T	NP_009230.2:n.2021-1420A>T
NM_007300.3:c.5467A>T	NP_009231.2:p.Thr1823Ser
NR_027676.1:n.5540A>T
NM_007294.4:c.5404A>T MANE Select	NP_009225.1:p.Thr1802Ser
NM_007297.4:c.5263A>T	NP_009228.2:p.Thr1755Ser
NM_007299.4:c.2021-1420A>T	NP_009230.2:n.2021-1420A>T
NM_007300.4:c.5467A>T	NP_009231.2:p.Thr1823Ser
NR_027676.2:n.5581A>T