Canonical Allele Identifier: CA003382

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55475
• ClinVar RCV Id: RCV000577664 ; RCV001076669 ; RCV002336198 ; RCV003529970
• dbSNP Id: rs397507245
• MyVariant Identifiers: chr17:g.41209104C>T (hg19) ; chr17:g.43057087C>T (hg38)
• PubMed: PMID:20638108

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057087C>T , CM000679.2:g.43057087C>T	GRCh38
NC_000017.10:g.41209104C>T , CM000679.1:g.41209104C>T	GRCh37
NC_000017.9:g.38462630C>T	NCBI36
NG_005905.2:g.160897G>A , LRG_292:g.160897G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5239G>A	ENSP00000417241.2:p.Gly1747Ser
ENST00000470026.6:c.5242G>A	ENSP00000419274.2:p.Gly1748Ser
ENST00000473961.6:c.5116G>A	ENSP00000420201.2:p.Gly1706Ser
ENST00000476777.6:c.5236G>A	ENSP00000417554.2:p.Gly1746Ser
ENST00000477152.6:c.5164G>A	ENSP00000419988.2:p.Gly1722Ser
ENST00000478531.6:c.1930G>A	ENSP00000420412.2:p.Gly644Ser
ENST00000489037.2:c.5164G>A	ENSP00000420781.2:p.Gly1722Ser
ENST00000493919.6:c.1792G>A	ENSP00000418819.2:p.Gly598Ser
ENST00000494123.6:c.5242G>A	ENSP00000419103.2:p.Gly1748Ser
ENST00000497488.2:c.4354G>A	ENSP00000418986.2:p.Gly1452Ser
ENST00000618469.2:c.5242G>A	ENSP00000478114.2:p.Gly1748Ser
ENST00000634433.2:c.5119G>A	ENSP00000489431.2:p.Gly1707Ser
ENST00000644379.2:c.5308G>A	ENSP00000496570.2:p.Gly1770Ser
ENST00000644555.2:c.1792G>A	ENSP00000494614.2:p.Gly598Ser
ENST00000652672.2:c.5101G>A	ENSP00000498906.2:p.Gly1701Ser
ENST00000484087.6:c.1804G>A	ENSP00000419481.2:p.Gly602Ser
ENST00000357654.9:c.5242G>A MANE Select	ENSP00000350283.3:p.Gly1748Ser
ENST00000471181.7:c.5305G>A	ENSP00000418960.2:p.Gly1769Ser
ENST00000644379.1:c.1629G>A
ENST00000352993.7:c.1816G>A	ENSP00000312236.5:p.Gly606Ser
ENST00000357654.7:c.5242G>A	ENSP00000350283.3:p.Gly1748Ser
ENST00000461221.5:c.*5025G>A	ENSP00000418548.1:n.*5025G>A
ENST00000468300.5:c.1930G>A	ENSP00000417148.1:p.Gly644Ser
ENST00000471181.6:c.5305G>A	ENSP00000418960.2:p.Gly1769Ser
ENST00000491747.6:c.1930G>A	ENSP00000420705.2:p.Gly644Ser
ENST00000493795.5:c.5101G>A	ENSP00000418775.1:p.Gly1701Ser
ENST00000586385.5:c.172G>A	ENSP00000465818.1:p.Gly58Ser
ENST00000591534.5:c.715G>A	ENSP00000467329.1:p.Gly239Ser
ENST00000591849.5:c.-98-6897G>A	ENSP00000465347.1:n.-98-6897G>A
NM_007294.3:c.5242G>A , LRG_292t1:c.5242G>A	NP_009225.1:p.Gly1748Ser
NM_007297.3:c.5101G>A	NP_009228.2:p.Gly1701Ser
NM_007298.3:c.1930G>A	NP_009229.2:p.Gly644Ser
NM_007299.3:c.1930G>A	NP_009230.2:p.Gly644Ser
NM_007300.3:c.5305G>A	NP_009231.2:p.Gly1769Ser
NR_027676.1:n.5378G>A
NM_007294.4:c.5242G>A MANE Select	NP_009225.1:p.Gly1748Ser
NM_007297.4:c.5101G>A	NP_009228.2:p.Gly1701Ser
NM_007299.4:c.1930G>A	NP_009230.2:p.Gly644Ser
NM_007300.4:c.5305G>A	NP_009231.2:p.Gly1769Ser
NR_027676.2:n.5419G>A