Canonical Allele Identifier: CA10592662

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41228553A>G (hg19) ; chr17:g.43076536A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076536A>G , CM000679.2:g.43076536A>G	GRCh38
NC_000017.10:g.41228553A>G , CM000679.1:g.41228553A>G	GRCh37
NC_000017.9:g.38482079A>G	NCBI36
NG_005905.2:g.141448T>C , LRG_292:g.141448T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4433T>C	ENSP00000417241.2:p.Val1478Ala
ENST00000470026.6:c.4436T>C	ENSP00000419274.2:p.Val1479Ala
ENST00000473961.6:c.4310T>C	ENSP00000420201.2:p.Val1437Ala
ENST00000476777.6:c.4430T>C	ENSP00000417554.2:p.Val1477Ala
ENST00000477152.6:c.4358T>C	ENSP00000419988.2:p.Val1453Ala
ENST00000478531.6:c.1124T>C	ENSP00000420412.2:p.Val375Ala
ENST00000489037.2:c.4358T>C	ENSP00000420781.2:p.Val1453Ala
ENST00000493919.6:c.986T>C	ENSP00000418819.2:p.Val329Ala
ENST00000494123.6:c.4436T>C	ENSP00000419103.2:p.Val1479Ala
ENST00000497488.2:c.3548T>C	ENSP00000418986.2:p.Val1183Ala
ENST00000618469.2:c.4436T>C	ENSP00000478114.2:p.Val1479Ala
ENST00000634433.2:c.4313T>C	ENSP00000489431.2:p.Val1438Ala
ENST00000644379.2:c.4502T>C	ENSP00000496570.2:p.Val1501Ala
ENST00000644555.2:c.986T>C	ENSP00000494614.2:p.Val329Ala
ENST00000652672.2:c.4295T>C	ENSP00000498906.2:p.Val1432Ala
ENST00000484087.6:c.998T>C	ENSP00000419481.2:p.Val333Ala
ENST00000700182.1:c.1043T>C	ENSP00000514849.1:p.Val348Ala
ENST00000357654.9:c.4436T>C MANE Select	ENSP00000350283.3:p.Val1479Ala
ENST00000471181.7:c.4499T>C	ENSP00000418960.2:p.Val1500Ala
ENST00000644379.1:c.823T>C
ENST00000352993.7:c.1010T>C	ENSP00000312236.5:p.Val337Ala
ENST00000357654.7:c.4436T>C	ENSP00000350283.3:p.Val1479Ala
ENST00000461221.5:c.*4219T>C	ENSP00000418548.1:n.*4219T>C
ENST00000468300.5:c.1124T>C	ENSP00000417148.1:p.Val375Ala
ENST00000471181.6:c.4499T>C	ENSP00000418960.2:p.Val1500Ala
ENST00000478531.5:c.1124T>C	ENSP00000420412.1:p.Val375Ala
ENST00000484087.5:c.749T>C	ENSP00000419481.1:p.Val250Ala
ENST00000487825.5:c.752T>C	ENSP00000418212.1:p.Val251Ala
ENST00000491747.6:c.1124T>C	ENSP00000420705.2:p.Val375Ala
ENST00000493795.5:c.4295T>C	ENSP00000418775.1:p.Val1432Ala
ENST00000493919.5:c.986T>C	ENSP00000418819.1:p.Val329Ala
ENST00000586385.5:c.5-12585T>C	ENSP00000465818.1:n.5-12585T>C
ENST00000591534.5:c.-43-2015T>C	ENSP00000467329.1:n.-43-2015T>C
ENST00000591849.5:c.-98-26346T>C	ENSP00000465347.1:n.-98-26346T>C
ENST00000621897.1:n.327T>C
NM_007294.3:c.4436T>C , LRG_292t1:c.4436T>C	NP_009225.1:p.Val1479Ala
NM_007297.3:c.4295T>C	NP_009228.2:p.Val1432Ala
NM_007298.3:c.1124T>C	NP_009229.2:p.Val375Ala
NM_007299.3:c.1124T>C	NP_009230.2:p.Val375Ala
NM_007300.3:c.4499T>C	NP_009231.2:p.Val1500Ala
NR_027676.1:n.4572T>C
NM_007294.4:c.4436T>C MANE Select	NP_009225.1:p.Val1479Ala
NM_007297.4:c.4295T>C	NP_009228.2:p.Val1432Ala
NM_007299.4:c.1124T>C	NP_009230.2:p.Val375Ala
NM_007300.4:c.4499T>C	NP_009231.2:p.Val1500Ala
NR_027676.2:n.4613T>C