Canonical Allele Identifier: CA003383

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37650
• ClinVar RCV Id: RCV000031231 ; RCV000473758 ; RCV000487391 ; RCV000509724
• dbSNP Id: rs397507245
• gnomAD v4: 17-43057087-C-A
• MyVariant Identifiers: chr17:g.41209104C>A (hg19) ; chr17:g.43057087C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5239G>T	ENSP00000417241.2:p.Gly1747Cys
ENST00000470026.6:c.5242G>T	ENSP00000419274.2:p.Gly1748Cys
ENST00000473961.6:c.5116G>T	ENSP00000420201.2:p.Gly1706Cys
ENST00000476777.6:c.5236G>T	ENSP00000417554.2:p.Gly1746Cys
ENST00000477152.6:c.5164G>T	ENSP00000419988.2:p.Gly1722Cys
ENST00000478531.6:c.1930G>T	ENSP00000420412.2:p.Gly644Cys
ENST00000489037.2:c.5164G>T	ENSP00000420781.2:p.Gly1722Cys
ENST00000493919.6:c.1792G>T	ENSP00000418819.2:p.Gly598Cys
ENST00000494123.6:c.5242G>T	ENSP00000419103.2:p.Gly1748Cys
ENST00000497488.2:c.4354G>T	ENSP00000418986.2:p.Gly1452Cys
ENST00000618469.2:c.5242G>T	ENSP00000478114.2:p.Gly1748Cys
ENST00000634433.2:c.5119G>T	ENSP00000489431.2:p.Gly1707Cys
ENST00000644379.2:c.5308G>T	ENSP00000496570.2:p.Gly1770Cys
ENST00000644555.2:c.1792G>T	ENSP00000494614.2:p.Gly598Cys
ENST00000652672.2:c.5101G>T	ENSP00000498906.2:p.Gly1701Cys
ENST00000484087.6:c.1804G>T	ENSP00000419481.2:p.Gly602Cys
ENST00000357654.9:c.5242G>T MANE Select	ENSP00000350283.3:p.Gly1748Cys
ENST00000471181.7:c.5305G>T	ENSP00000418960.2:p.Gly1769Cys
ENST00000644379.1:c.1629G>T
ENST00000352993.7:c.1816G>T	ENSP00000312236.5:p.Gly606Cys
ENST00000357654.7:c.5242G>T	ENSP00000350283.3:p.Gly1748Cys
ENST00000461221.5:c.*5025G>T	ENSP00000418548.1:n.*5025G>T
ENST00000468300.5:c.1930G>T	ENSP00000417148.1:p.Gly644Cys
ENST00000471181.6:c.5305G>T	ENSP00000418960.2:p.Gly1769Cys
ENST00000491747.6:c.1930G>T	ENSP00000420705.2:p.Gly644Cys
ENST00000493795.5:c.5101G>T	ENSP00000418775.1:p.Gly1701Cys
ENST00000586385.5:c.172G>T	ENSP00000465818.1:p.Gly58Cys
ENST00000591534.5:c.715G>T	ENSP00000467329.1:p.Gly239Cys
ENST00000591849.5:c.-98-6897G>T	ENSP00000465347.1:n.-98-6897G>T
NM_007294.3:c.5242G>T , LRG_292t1:c.5242G>T	NP_009225.1:p.Gly1748Cys
NM_007297.3:c.5101G>T	NP_009228.2:p.Gly1701Cys
NM_007298.3:c.1930G>T	NP_009229.2:p.Gly644Cys
NM_007299.3:c.1930G>T	NP_009230.2:p.Gly644Cys
NM_007300.3:c.5305G>T	NP_009231.2:p.Gly1769Cys
NR_027676.1:n.5378G>T
NM_007294.4:c.5242G>T MANE Select	NP_009225.1:p.Gly1748Cys
NM_007297.4:c.5101G>T	NP_009228.2:p.Gly1701Cys
NM_007299.4:c.1930G>T	NP_009230.2:p.Gly644Cys
NM_007300.4:c.5305G>T	NP_009231.2:p.Gly1769Cys
NR_027676.2:n.5419G>T