Canonical Allele Identifier: CA10593164

Gene: BRCA1

Linked Data

• dbSNP Id: rs2154153020
• MyVariant Identifiers: chr17:g.41234498T>G (hg19) ; chr17:g.43082481T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082481T>G , CM000679.2:g.43082481T>G	GRCh38
NC_000017.10:g.41234498T>G , CM000679.1:g.41234498T>G	GRCh37
NC_000017.9:g.38488024T>G	NCBI36
NG_005905.2:g.135503A>C , LRG_292:g.135503A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4280A>C	ENSP00000417241.2:p.Asn1427Thr
ENST00000470026.6:c.4280A>C	ENSP00000419274.2:p.Asn1427Thr
ENST00000473961.6:c.4154A>C	ENSP00000420201.2:p.Asn1385Thr
ENST00000476777.6:c.4274A>C	ENSP00000417554.2:p.Asn1425Thr
ENST00000477152.6:c.4202A>C	ENSP00000419988.2:p.Asn1401Thr
ENST00000478531.6:c.968A>C	ENSP00000420412.2:p.Asn323Thr
ENST00000489037.2:c.4202A>C	ENSP00000420781.2:p.Asn1401Thr
ENST00000493919.6:c.830A>C	ENSP00000418819.2:p.Asn277Thr
ENST00000494123.6:c.4280A>C	ENSP00000419103.2:p.Asn1427Thr
ENST00000497488.2:c.3392A>C	ENSP00000418986.2:p.Asn1131Thr
ENST00000618469.2:c.4280A>C	ENSP00000478114.2:p.Asn1427Thr
ENST00000634433.2:c.4157A>C	ENSP00000489431.2:p.Asn1386Thr
ENST00000644379.2:c.4280A>C	ENSP00000496570.2:p.Asn1427Thr
ENST00000644555.2:c.830A>C	ENSP00000494614.2:p.Asn277Thr
ENST00000652672.2:c.4139A>C	ENSP00000498906.2:p.Asn1380Thr
ENST00000484087.6:c.845A>C	ENSP00000419481.2:p.Asn282Thr
ENST00000700182.1:c.890A>C	ENSP00000514849.1:p.Asn297Thr
ENST00000357654.9:c.4280A>C MANE Select	ENSP00000350283.3:p.Asn1427Thr
ENST00000471181.7:c.4280A>C	ENSP00000418960.2:p.Asn1427Thr
ENST00000644379.1:c.601A>C
ENST00000352993.7:c.854A>C	ENSP00000312236.5:p.Asn285Thr
ENST00000357654.7:c.4280A>C	ENSP00000350283.3:p.Asn1427Thr
ENST00000461221.5:c.*4063A>C	ENSP00000418548.1:n.*4063A>C
ENST00000461574.1:c.574A>C
ENST00000468300.5:c.971A>C	ENSP00000417148.1:p.Asn324Thr
ENST00000471181.6:c.4280A>C	ENSP00000418960.2:p.Asn1427Thr
ENST00000478531.5:c.968A>C	ENSP00000420412.1:p.Asn323Thr
ENST00000484087.5:c.593A>C	ENSP00000419481.1:p.Asn198Thr
ENST00000487825.5:c.596A>C	ENSP00000418212.1:p.Asn199Thr
ENST00000491747.6:c.971A>C	ENSP00000420705.2:p.Asn324Thr
ENST00000493795.5:c.4139A>C	ENSP00000418775.1:p.Asn1380Thr
ENST00000493919.5:c.830A>C	ENSP00000418819.1:p.Asn277Thr
ENST00000586385.5:c.5-18530A>C	ENSP00000465818.1:n.5-18530A>C
ENST00000591534.5:c.-43-7960A>C	ENSP00000467329.1:n.-43-7960A>C
ENST00000591849.5:c.-98-32291A>C	ENSP00000465347.1:n.-98-32291A>C
ENST00000621897.1:n.174A>C
NM_007294.3:c.4280A>C , LRG_292t1:c.4280A>C	NP_009225.1:p.Asn1427Thr
NM_007297.3:c.4139A>C	NP_009228.2:p.Asn1380Thr
NM_007298.3:c.971A>C	NP_009229.2:p.Asn324Thr
NM_007299.3:c.971A>C	NP_009230.2:p.Asn324Thr
NM_007300.3:c.4280A>C	NP_009231.2:p.Asn1427Thr
NR_027676.1:n.4416A>C
NM_007294.4:c.4280A>C MANE Select	NP_009225.1:p.Asn1427Thr
NM_007297.4:c.4139A>C	NP_009228.2:p.Asn1380Thr
NM_007299.4:c.971A>C	NP_009230.2:p.Asn324Thr
NM_007300.4:c.4280A>C	NP_009231.2:p.Asn1427Thr
NR_027676.2:n.4457A>C