Canonical Allele Identifier: CA10591498

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867534
• ClinVar RCV Id: RCV001076239
• dbSNP Id: rs2052181996
• MyVariant Identifiers: chr17:g.41219688T>G (hg19) ; chr17:g.43067671T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067671T>G , CM000679.2:g.43067671T>G	GRCh38
NC_000017.10:g.41219688T>G , CM000679.1:g.41219688T>G	GRCh37
NC_000017.9:g.38473214T>G	NCBI36
NG_005905.2:g.150313A>C , LRG_292:g.150313A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5008A>C	ENSP00000417241.2:p.Lys1670Gln
ENST00000470026.6:c.5011A>C	ENSP00000419274.2:p.Lys1671Gln
ENST00000473961.6:c.4885A>C	ENSP00000420201.2:p.Lys1629Gln
ENST00000476777.6:c.5005A>C	ENSP00000417554.2:p.Lys1669Gln
ENST00000477152.6:c.4933A>C	ENSP00000419988.2:p.Lys1645Gln
ENST00000478531.6:c.1699A>C	ENSP00000420412.2:p.Lys567Gln
ENST00000489037.2:c.4933A>C	ENSP00000420781.2:p.Lys1645Gln
ENST00000493919.6:c.1561A>C	ENSP00000418819.2:p.Lys521Gln
ENST00000494123.6:c.5011A>C	ENSP00000419103.2:p.Lys1671Gln
ENST00000497488.2:c.4123A>C	ENSP00000418986.2:p.Lys1375Gln
ENST00000618469.2:c.5011A>C	ENSP00000478114.2:p.Lys1671Gln
ENST00000634433.2:c.4888A>C	ENSP00000489431.2:p.Lys1630Gln
ENST00000644379.2:c.5077A>C	ENSP00000496570.2:p.Lys1693Gln
ENST00000644555.2:c.1561A>C	ENSP00000494614.2:p.Lys521Gln
ENST00000652672.2:c.4870A>C	ENSP00000498906.2:p.Lys1624Gln
ENST00000484087.6:c.1573A>C	ENSP00000419481.2:p.Lys525Gln
ENST00000357654.9:c.5011A>C MANE Select	ENSP00000350283.3:p.Lys1671Gln
ENST00000471181.7:c.5074A>C	ENSP00000418960.2:p.Lys1692Gln
ENST00000644379.1:c.1398A>C
ENST00000352993.7:c.1585A>C	ENSP00000312236.5:p.Lys529Gln
ENST00000357654.7:c.5011A>C	ENSP00000350283.3:p.Lys1671Gln
ENST00000461221.5:c.*4794A>C	ENSP00000418548.1:n.*4794A>C
ENST00000468300.5:c.1699A>C	ENSP00000417148.1:p.Lys567Gln
ENST00000471181.6:c.5074A>C	ENSP00000418960.2:p.Lys1692Gln
ENST00000472490.1:n.164A>C
ENST00000478531.5:c.1699A>C	ENSP00000420412.1:p.Lys567Gln
ENST00000484087.5:c.1324A>C	ENSP00000419481.1:p.Lys442Gln
ENST00000491747.6:c.1699A>C	ENSP00000420705.2:p.Lys567Gln
ENST00000493795.5:c.4870A>C	ENSP00000418775.1:p.Lys1624Gln
ENST00000493919.5:c.1561A>C	ENSP00000418819.1:p.Lys521Gln
ENST00000586385.5:c.5-3720A>C	ENSP00000465818.1:n.5-3720A>C
ENST00000591534.5:c.484A>C	ENSP00000467329.1:p.Lys162Gln
ENST00000591849.5:c.-98-17481A>C	ENSP00000465347.1:n.-98-17481A>C
NM_007294.3:c.5011A>C , LRG_292t1:c.5011A>C	NP_009225.1:p.Lys1671Gln
NM_007297.3:c.4870A>C	NP_009228.2:p.Lys1624Gln
NM_007298.3:c.1699A>C	NP_009229.2:p.Lys567Gln
NM_007299.3:c.1699A>C	NP_009230.2:p.Lys567Gln
NM_007300.3:c.5074A>C	NP_009231.2:p.Lys1692Gln
NR_027676.1:n.5147A>C
NM_007294.4:c.5011A>C MANE Select	NP_009225.1:p.Lys1671Gln
NM_007297.4:c.4870A>C	NP_009228.2:p.Lys1624Gln
NM_007299.4:c.1699A>C	NP_009230.2:p.Lys567Gln
NM_007300.4:c.5074A>C	NP_009231.2:p.Lys1692Gln
NR_027676.2:n.5188A>C