Canonical Allele Identifier: CA10592745

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43076576-T-G
• MyVariant Identifiers: chr17:g.41228593T>G (hg19) ; chr17:g.43076576T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076576T>G , CM000679.2:g.43076576T>G	GRCh38
NC_000017.10:g.41228593T>G , CM000679.1:g.41228593T>G	GRCh37
NC_000017.9:g.38482119T>G	NCBI36
NG_005905.2:g.141408A>C , LRG_292:g.141408A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4393A>C	ENSP00000417241.2:p.Ser1465Arg
ENST00000470026.6:c.4396A>C	ENSP00000419274.2:p.Ser1466Arg
ENST00000473961.6:c.4270A>C	ENSP00000420201.2:p.Ser1424Arg
ENST00000476777.6:c.4390A>C	ENSP00000417554.2:p.Ser1464Arg
ENST00000477152.6:c.4318A>C	ENSP00000419988.2:p.Ser1440Arg
ENST00000478531.6:c.1084A>C	ENSP00000420412.2:p.Ser362Arg
ENST00000489037.2:c.4318A>C	ENSP00000420781.2:p.Ser1440Arg
ENST00000493919.6:c.946A>C	ENSP00000418819.2:p.Ser316Arg
ENST00000494123.6:c.4396A>C	ENSP00000419103.2:p.Ser1466Arg
ENST00000497488.2:c.3508A>C	ENSP00000418986.2:p.Ser1170Arg
ENST00000618469.2:c.4396A>C	ENSP00000478114.2:p.Ser1466Arg
ENST00000634433.2:c.4273A>C	ENSP00000489431.2:p.Ser1425Arg
ENST00000644379.2:c.4462A>C	ENSP00000496570.2:p.Ser1488Arg
ENST00000644555.2:c.946A>C	ENSP00000494614.2:p.Ser316Arg
ENST00000652672.2:c.4255A>C	ENSP00000498906.2:p.Ser1419Arg
ENST00000484087.6:c.958A>C	ENSP00000419481.2:p.Ser320Arg
ENST00000700182.1:c.1003A>C	ENSP00000514849.1:p.Ser335Arg
ENST00000357654.9:c.4396A>C MANE Select	ENSP00000350283.3:p.Ser1466Arg
ENST00000471181.7:c.4459A>C	ENSP00000418960.2:p.Ser1487Arg
ENST00000644379.1:c.783A>C
ENST00000352993.7:c.970A>C	ENSP00000312236.5:p.Ser324Arg
ENST00000357654.7:c.4396A>C	ENSP00000350283.3:p.Ser1466Arg
ENST00000461221.5:c.*4179A>C	ENSP00000418548.1:n.*4179A>C
ENST00000461574.1:c.687A>C
ENST00000468300.5:c.1084A>C	ENSP00000417148.1:p.Ser362Arg
ENST00000471181.6:c.4459A>C	ENSP00000418960.2:p.Ser1487Arg
ENST00000478531.5:c.1084A>C	ENSP00000420412.1:p.Ser362Arg
ENST00000484087.5:c.709A>C	ENSP00000419481.1:p.Ser237Arg
ENST00000487825.5:c.712A>C	ENSP00000418212.1:p.Ser238Arg
ENST00000491747.6:c.1084A>C	ENSP00000420705.2:p.Ser362Arg
ENST00000493795.5:c.4255A>C	ENSP00000418775.1:p.Ser1419Arg
ENST00000493919.5:c.946A>C	ENSP00000418819.1:p.Ser316Arg
ENST00000586385.5:c.5-12625A>C	ENSP00000465818.1:n.5-12625A>C
ENST00000591534.5:c.-43-2055A>C	ENSP00000467329.1:n.-43-2055A>C
ENST00000591849.5:c.-98-26386A>C	ENSP00000465347.1:n.-98-26386A>C
ENST00000621897.1:n.287A>C
NM_007294.3:c.4396A>C , LRG_292t1:c.4396A>C	NP_009225.1:p.Ser1466Arg
NM_007297.3:c.4255A>C	NP_009228.2:p.Ser1419Arg
NM_007298.3:c.1084A>C	NP_009229.2:p.Ser362Arg
NM_007299.3:c.1084A>C	NP_009230.2:p.Ser362Arg
NM_007300.3:c.4459A>C	NP_009231.2:p.Ser1487Arg
NR_027676.1:n.4532A>C
NM_007294.4:c.4396A>C MANE Select	NP_009225.1:p.Ser1466Arg
NM_007297.4:c.4255A>C	NP_009228.2:p.Ser1419Arg
NM_007299.4:c.1084A>C	NP_009230.2:p.Ser362Arg
NM_007300.4:c.4459A>C	NP_009231.2:p.Ser1487Arg
NR_027676.2:n.4573A>C