Canonical Allele Identifier: CA10593300

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41234569G>C (hg19) ; chr17:g.43082552G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082552G>C , CM000679.2:g.43082552G>C	GRCh38
NC_000017.10:g.41234569G>C , CM000679.1:g.41234569G>C	GRCh37
NC_000017.9:g.38488095G>C	NCBI36
NG_005905.2:g.135432C>G , LRG_292:g.135432C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4209C>G	ENSP00000417241.2:p.Asn1403Lys
ENST00000470026.6:c.4209C>G	ENSP00000419274.2:p.Asn1403Lys
ENST00000473961.6:c.4083C>G	ENSP00000420201.2:p.Asn1361Lys
ENST00000476777.6:c.4203C>G	ENSP00000417554.2:p.Asn1401Lys
ENST00000477152.6:c.4131C>G	ENSP00000419988.2:p.Asn1377Lys
ENST00000478531.6:c.897C>G	ENSP00000420412.2:p.Asn299Lys
ENST00000489037.2:c.4131C>G	ENSP00000420781.2:p.Asn1377Lys
ENST00000493919.6:c.759C>G	ENSP00000418819.2:p.Asn253Lys
ENST00000494123.6:c.4209C>G	ENSP00000419103.2:p.Asn1403Lys
ENST00000497488.2:c.3321C>G	ENSP00000418986.2:p.Asn1107Lys
ENST00000618469.2:c.4209C>G	ENSP00000478114.2:p.Asn1403Lys
ENST00000634433.2:c.4086C>G	ENSP00000489431.2:p.Asn1362Lys
ENST00000644379.2:c.4209C>G	ENSP00000496570.2:p.Asn1403Lys
ENST00000644555.2:c.759C>G	ENSP00000494614.2:p.Asn253Lys
ENST00000652672.2:c.4068C>G	ENSP00000498906.2:p.Asn1356Lys
ENST00000484087.6:c.774C>G	ENSP00000419481.2:p.Asn258Lys
ENST00000700182.1:c.819C>G	ENSP00000514849.1:p.Asn273Lys
ENST00000357654.9:c.4209C>G MANE Select	ENSP00000350283.3:p.Asn1403Lys
ENST00000471181.7:c.4209C>G	ENSP00000418960.2:p.Asn1403Lys
ENST00000644379.1:c.530C>G
ENST00000352993.7:c.783C>G	ENSP00000312236.5:p.Asn261Lys
ENST00000357654.7:c.4209C>G	ENSP00000350283.3:p.Asn1403Lys
ENST00000461221.5:c.*3992C>G	ENSP00000418548.1:n.*3992C>G
ENST00000461574.1:c.503C>G
ENST00000468300.5:c.900C>G	ENSP00000417148.1:p.Asn300Lys
ENST00000471181.6:c.4209C>G	ENSP00000418960.2:p.Asn1403Lys
ENST00000478531.5:c.897C>G	ENSP00000420412.1:p.Asn299Lys
ENST00000484087.5:c.522C>G	ENSP00000419481.1:p.Asn174Lys
ENST00000487825.5:c.525C>G	ENSP00000418212.1:p.Asn175Lys
ENST00000491747.6:c.900C>G	ENSP00000420705.2:p.Asn300Lys
ENST00000493795.5:c.4068C>G	ENSP00000418775.1:p.Asn1356Lys
ENST00000493919.5:c.759C>G	ENSP00000418819.1:p.Asn253Lys
ENST00000586385.5:c.5-18601C>G	ENSP00000465818.1:n.5-18601C>G
ENST00000591534.5:c.-43-8031C>G	ENSP00000467329.1:n.-43-8031C>G
ENST00000591849.5:c.-98-32362C>G	ENSP00000465347.1:n.-98-32362C>G
ENST00000621897.1:n.103C>G
NM_007294.3:c.4209C>G , LRG_292t1:c.4209C>G	NP_009225.1:p.Asn1403Lys
NM_007297.3:c.4068C>G	NP_009228.2:p.Asn1356Lys
NM_007298.3:c.900C>G	NP_009229.2:p.Asn300Lys
NM_007299.3:c.900C>G	NP_009230.2:p.Asn300Lys
NM_007300.3:c.4209C>G	NP_009231.2:p.Asn1403Lys
NR_027676.1:n.4345C>G
NM_007294.4:c.4209C>G MANE Select	NP_009225.1:p.Asn1403Lys
NM_007297.4:c.4068C>G	NP_009228.2:p.Asn1356Lys
NM_007299.4:c.900C>G	NP_009230.2:p.Asn300Lys
NM_007300.4:c.4209C>G	NP_009231.2:p.Asn1403Lys
NR_027676.2:n.4386C>G