Canonical Allele Identifier: CA10590210

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 869042
• ClinVar RCV Id: RCV001078071 ; RCV002557940
• dbSNP Id: rs730881502
• MyVariant Identifiers: chr17:g.41197732G>C (hg19) ; chr17:g.43045715G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045715G>C , CM000679.2:g.43045715G>C	GRCh38
NC_000017.10:g.41197732G>C , CM000679.1:g.41197732G>C	GRCh37
NC_000017.9:g.38451258G>C	NCBI36
NG_005905.2:g.172269C>G , LRG_292:g.172269C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5552C>G	ENSP00000417241.2:p.Thr1851Ser
ENST00000470026.6:c.5555C>G	ENSP00000419274.2:p.Thr1852Ser
ENST00000473961.6:c.5429C>G	ENSP00000420201.2:p.Thr1810Ser
ENST00000476777.6:c.5549C>G	ENSP00000417554.2:p.Thr1850Ser
ENST00000477152.6:c.5477C>G	ENSP00000419988.2:p.Thr1826Ser
ENST00000478531.6:c.2243C>G	ENSP00000420412.2:p.Thr748Ser
ENST00000489037.2:c.5477C>G	ENSP00000420781.2:p.Thr1826Ser
ENST00000493919.6:c.2105C>G	ENSP00000418819.2:p.Thr702Ser
ENST00000494123.6:c.5555C>G	ENSP00000419103.2:p.Thr1852Ser
ENST00000497488.2:c.4667C>G	ENSP00000418986.2:p.Thr1556Ser
ENST00000618469.2:c.5555C>G	ENSP00000478114.2:p.Thr1852Ser
ENST00000634433.2:c.5432C>G	ENSP00000489431.2:p.Thr1811Ser
ENST00000644379.2:c.5621C>G	ENSP00000496570.2:p.Thr1874Ser
ENST00000644555.2:c.2105C>G	ENSP00000494614.2:p.Thr702Ser
ENST00000652672.2:c.5414C>G	ENSP00000498906.2:p.Thr1805Ser
ENST00000484087.6:c.2117C>G	ENSP00000419481.2:p.Thr706Ser
ENST00000700081.1:n.1438C>G
ENST00000700082.1:n.919C>G
ENST00000357654.9:c.5555C>G MANE Select	ENSP00000350283.3:p.Thr1852Ser
ENST00000471181.7:c.5618C>G	ENSP00000418960.2:p.Thr1873Ser
ENST00000644379.1:c.1942C>G
ENST00000352993.7:c.2129C>G	ENSP00000312236.5:p.Thr710Ser
ENST00000357654.7:c.5555C>G	ENSP00000350283.3:p.Thr1852Ser
ENST00000461221.5:c.*5338C>G	ENSP00000418548.1:n.*5338C>G
ENST00000468300.5:c.*69C>G	ENSP00000417148.1:n.*69C>G
ENST00000471181.6:c.5618C>G	ENSP00000418960.2:p.Thr1873Ser
ENST00000491747.6:c.2243C>G	ENSP00000420705.2:p.Thr748Ser
ENST00000493795.5:c.5414C>G	ENSP00000418775.1:p.Thr1805Ser
ENST00000586385.5:c.485C>G	ENSP00000465818.1:p.Thr162Ser
ENST00000591534.5:c.1028C>G	ENSP00000467329.1:p.Thr343Ser
ENST00000591849.5:c.254C>G	ENSP00000465347.1:p.Thr85Ser
NM_007294.3:c.5555C>G , LRG_292t1:c.5555C>G	NP_009225.1:p.Thr1852Ser
NM_007297.3:c.5414C>G	NP_009228.2:p.Thr1805Ser
NM_007298.3:c.2243C>G	NP_009229.2:p.Thr748Ser
NM_007299.3:c.*69C>G	NP_009230.2:n.*69C>G
NM_007300.3:c.5618C>G	NP_009231.2:p.Thr1873Ser
NR_027676.1:n.5691C>G
NM_007294.4:c.5555C>G MANE Select	NP_009225.1:p.Thr1852Ser
NM_007297.4:c.5414C>G	NP_009228.2:p.Thr1805Ser
NM_007299.4:c.*69C>G	NP_009230.2:n.*69C>G
NM_007300.4:c.5618C>G	NP_009231.2:p.Thr1873Ser
NR_027676.2:n.5732C>G