Canonical Allele Identifier: CA10592729

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1014065
• ClinVar RCV Id: RCV001312744 ; RCV004034264
• dbSNP Id: rs778707598
• MyVariant Identifiers: chr17:g.41228586T>G (hg19) ; chr17:g.43076569T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076569T>G , CM000679.2:g.43076569T>G	GRCh38
NC_000017.10:g.41228586T>G , CM000679.1:g.41228586T>G	GRCh37
NC_000017.9:g.38482112T>G	NCBI36
NG_005905.2:g.141415A>C , LRG_292:g.141415A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4400A>C	ENSP00000417241.2:p.Asn1467Thr
ENST00000470026.6:c.4403A>C	ENSP00000419274.2:p.Asn1468Thr
ENST00000473961.6:c.4277A>C	ENSP00000420201.2:p.Asn1426Thr
ENST00000476777.6:c.4397A>C	ENSP00000417554.2:p.Asn1466Thr
ENST00000477152.6:c.4325A>C	ENSP00000419988.2:p.Asn1442Thr
ENST00000478531.6:c.1091A>C	ENSP00000420412.2:p.Asn364Thr
ENST00000489037.2:c.4325A>C	ENSP00000420781.2:p.Asn1442Thr
ENST00000493919.6:c.953A>C	ENSP00000418819.2:p.Asn318Thr
ENST00000494123.6:c.4403A>C	ENSP00000419103.2:p.Asn1468Thr
ENST00000497488.2:c.3515A>C	ENSP00000418986.2:p.Asn1172Thr
ENST00000618469.2:c.4403A>C	ENSP00000478114.2:p.Asn1468Thr
ENST00000634433.2:c.4280A>C	ENSP00000489431.2:p.Asn1427Thr
ENST00000644379.2:c.4469A>C	ENSP00000496570.2:p.Asn1490Thr
ENST00000644555.2:c.953A>C	ENSP00000494614.2:p.Asn318Thr
ENST00000652672.2:c.4262A>C	ENSP00000498906.2:p.Asn1421Thr
ENST00000484087.6:c.965A>C	ENSP00000419481.2:p.Asn322Thr
ENST00000700182.1:c.1010A>C	ENSP00000514849.1:p.Asn337Thr
ENST00000357654.9:c.4403A>C MANE Select	ENSP00000350283.3:p.Asn1468Thr
ENST00000471181.7:c.4466A>C	ENSP00000418960.2:p.Asn1489Thr
ENST00000644379.1:c.790A>C
ENST00000352993.7:c.977A>C	ENSP00000312236.5:p.Asn326Thr
ENST00000357654.7:c.4403A>C	ENSP00000350283.3:p.Asn1468Thr
ENST00000461221.5:c.*4186A>C	ENSP00000418548.1:n.*4186A>C
ENST00000461574.1:c.694A>C
ENST00000468300.5:c.1091A>C	ENSP00000417148.1:p.Asn364Thr
ENST00000471181.6:c.4466A>C	ENSP00000418960.2:p.Asn1489Thr
ENST00000478531.5:c.1091A>C	ENSP00000420412.1:p.Asn364Thr
ENST00000484087.5:c.716A>C	ENSP00000419481.1:p.Asn239Thr
ENST00000487825.5:c.719A>C	ENSP00000418212.1:p.Asn240Thr
ENST00000491747.6:c.1091A>C	ENSP00000420705.2:p.Asn364Thr
ENST00000493795.5:c.4262A>C	ENSP00000418775.1:p.Asn1421Thr
ENST00000493919.5:c.953A>C	ENSP00000418819.1:p.Asn318Thr
ENST00000586385.5:c.5-12618A>C	ENSP00000465818.1:n.5-12618A>C
ENST00000591534.5:c.-43-2048A>C	ENSP00000467329.1:n.-43-2048A>C
ENST00000591849.5:c.-98-26379A>C	ENSP00000465347.1:n.-98-26379A>C
ENST00000621897.1:n.294A>C
NM_007294.3:c.4403A>C , LRG_292t1:c.4403A>C	NP_009225.1:p.Asn1468Thr
NM_007297.3:c.4262A>C	NP_009228.2:p.Asn1421Thr
NM_007298.3:c.1091A>C	NP_009229.2:p.Asn364Thr
NM_007299.3:c.1091A>C	NP_009230.2:p.Asn364Thr
NM_007300.3:c.4466A>C	NP_009231.2:p.Asn1489Thr
NR_027676.1:n.4539A>C
NM_007294.4:c.4403A>C MANE Select	NP_009225.1:p.Asn1468Thr
NM_007297.4:c.4262A>C	NP_009228.2:p.Asn1421Thr
NM_007299.4:c.1091A>C	NP_009230.2:p.Asn364Thr
NM_007300.4:c.4466A>C	NP_009231.2:p.Asn1489Thr
NR_027676.2:n.4580A>C