Canonical Allele Identifier: CA10591288

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867677
• ClinVar RCV Id: RCV001076421
• dbSNP Id: rs886038197
• MyVariant Identifiers: chr17:g.41215918C>A (hg19) ; chr17:g.43063901C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063901C>A , CM000679.2:g.43063901C>A	GRCh38
NC_000017.10:g.41215918C>A , CM000679.1:g.41215918C>A	GRCh37
NC_000017.9:g.38469444C>A	NCBI36
NG_005905.2:g.154083G>T , LRG_292:g.154083G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5122G>T	ENSP00000417241.2:p.Gly1708Ter
ENST00000470026.6:c.5125G>T	ENSP00000419274.2:p.Gly1709Ter
ENST00000473961.6:c.4999G>T	ENSP00000420201.2:p.Gly1667Ter
ENST00000476777.6:c.5119G>T	ENSP00000417554.2:p.Gly1707Ter
ENST00000477152.6:c.5047G>T	ENSP00000419988.2:p.Gly1683Ter
ENST00000478531.6:c.1813G>T	ENSP00000420412.2:p.Gly605Ter
ENST00000489037.2:c.5047G>T	ENSP00000420781.2:p.Gly1683Ter
ENST00000493919.6:c.1675G>T	ENSP00000418819.2:p.Gly559Ter
ENST00000494123.6:c.5125G>T	ENSP00000419103.2:p.Gly1709Ter
ENST00000497488.2:c.4237G>T	ENSP00000418986.2:p.Gly1413Ter
ENST00000618469.2:c.5125G>T	ENSP00000478114.2:p.Gly1709Ter
ENST00000634433.2:c.5002G>T	ENSP00000489431.2:p.Gly1668Ter
ENST00000644379.2:c.5191G>T	ENSP00000496570.2:p.Gly1731Ter
ENST00000644555.2:c.1675G>T	ENSP00000494614.2:p.Gly559Ter
ENST00000652672.2:c.4984G>T	ENSP00000498906.2:p.Gly1662Ter
ENST00000484087.6:c.1687G>T	ENSP00000419481.2:p.Gly563Ter
ENST00000357654.9:c.5125G>T MANE Select	ENSP00000350283.3:p.Gly1709Ter
ENST00000471181.7:c.5188G>T	ENSP00000418960.2:p.Gly1730Ter
ENST00000644379.1:c.1512G>T
ENST00000352993.7:c.1699G>T	ENSP00000312236.5:p.Gly567Ter
ENST00000357654.7:c.5125G>T	ENSP00000350283.3:p.Gly1709Ter
ENST00000461221.5:c.*4908G>T	ENSP00000418548.1:n.*4908G>T
ENST00000468300.5:c.1813G>T	ENSP00000417148.1:p.Gly605Ter
ENST00000471181.6:c.5188G>T	ENSP00000418960.2:p.Gly1730Ter
ENST00000478531.5:c.1813G>T	ENSP00000420412.1:p.Gly605Ter
ENST00000484087.5:c.1438G>T	ENSP00000419481.1:p.Gly480Ter
ENST00000491747.6:c.1813G>T	ENSP00000420705.2:p.Gly605Ter
ENST00000493795.5:c.4984G>T	ENSP00000418775.1:p.Gly1662Ter
ENST00000493919.5:c.1675G>T	ENSP00000418819.1:p.Gly559Ter
ENST00000586385.5:c.55G>T	ENSP00000465818.1:p.Gly19Ter
ENST00000591534.5:c.598G>T	ENSP00000467329.1:p.Gly200Ter
ENST00000591849.5:c.-98-13711G>T	ENSP00000465347.1:n.-98-13711G>T
NM_007294.3:c.5125G>T , LRG_292t1:c.5125G>T	NP_009225.1:p.Gly1709Ter
NM_007297.3:c.4984G>T	NP_009228.2:p.Gly1662Ter
NM_007298.3:c.1813G>T	NP_009229.2:p.Gly605Ter
NM_007299.3:c.1813G>T	NP_009230.2:p.Gly605Ter
NM_007300.3:c.5188G>T	NP_009231.2:p.Gly1730Ter
NR_027676.1:n.5261G>T
NM_007294.4:c.5125G>T MANE Select	NP_009225.1:p.Gly1709Ter
NM_007297.4:c.4984G>T	NP_009228.2:p.Gly1662Ter
NM_007299.4:c.1813G>T	NP_009230.2:p.Gly605Ter
NM_007300.4:c.5188G>T	NP_009231.2:p.Gly1730Ter
NR_027676.2:n.5302G>T