Canonical Allele Identifier: CA500146139

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867698
• ClinVar RCV Id: RCV001076444
• dbSNP Id: rs80357094
• MyVariant Identifiers: chr17:g.41215898G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063881G>A , CM000679.2:g.43063881G>A	GRCh38
NC_000017.10:g.41215898G>A , CM000679.1:g.41215898G>A	GRCh37
NC_000017.9:g.38469424G>A	NCBI36
NG_005905.2:g.154103C>T , LRG_292:g.154103C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5142C>T	ENSP00000417241.2:p.Ser1714=
ENST00000470026.6:c.5145C>T	ENSP00000419274.2:p.Ser1715=
ENST00000473961.6:c.5019C>T	ENSP00000420201.2:p.Ser1673=
ENST00000476777.6:c.5139C>T	ENSP00000417554.2:p.Ser1713=
ENST00000477152.6:c.5067C>T	ENSP00000419988.2:p.Ser1689=
ENST00000478531.6:c.1833C>T	ENSP00000420412.2:p.Ser611=
ENST00000489037.2:c.5067C>T	ENSP00000420781.2:p.Ser1689=
ENST00000493919.6:c.1695C>T	ENSP00000418819.2:p.Ser565=
ENST00000494123.6:c.5145C>T	ENSP00000419103.2:p.Ser1715=
ENST00000497488.2:c.4257C>T	ENSP00000418986.2:p.Ser1419=
ENST00000618469.2:c.5145C>T	ENSP00000478114.2:p.Ser1715=
ENST00000634433.2:c.5022C>T	ENSP00000489431.2:p.Ser1674=
ENST00000644379.2:c.5211C>T	ENSP00000496570.2:p.Ser1737=
ENST00000644555.2:c.1695C>T	ENSP00000494614.2:p.Ser565=
ENST00000652672.2:c.5004C>T	ENSP00000498906.2:p.Ser1668=
ENST00000484087.6:c.1707C>T	ENSP00000419481.2:p.Ser569=
ENST00000357654.9:c.5145C>T MANE Select	ENSP00000350283.3:p.Ser1715=
ENST00000471181.7:c.5208C>T	ENSP00000418960.2:p.Ser1736=
ENST00000644379.1:c.1532C>T
ENST00000352993.7:c.1719C>T	ENSP00000312236.5:p.Ser573=
ENST00000357654.7:c.5145C>T	ENSP00000350283.3:p.Ser1715=
ENST00000461221.5:c.*4928C>T	ENSP00000418548.1:n.*4928C>T
ENST00000468300.5:c.1833C>T	ENSP00000417148.1:p.Ser611=
ENST00000471181.6:c.5208C>T	ENSP00000418960.2:p.Ser1736=
ENST00000478531.5:c.1833C>T	ENSP00000420412.1:p.Ser611=
ENST00000484087.5:c.1458C>T	ENSP00000419481.1:p.Ser486=
ENST00000491747.6:c.1833C>T	ENSP00000420705.2:p.Ser611=
ENST00000493795.5:c.5004C>T	ENSP00000418775.1:p.Ser1668=
ENST00000493919.5:c.1695C>T	ENSP00000418819.1:p.Ser565=
ENST00000586385.5:c.75C>T	ENSP00000465818.1:p.Ser25=
ENST00000591534.5:c.618C>T	ENSP00000467329.1:p.Ser206=
ENST00000591849.5:c.-98-13691C>T	ENSP00000465347.1:n.-98-13691C>T
NM_007294.3:c.5145C>T , LRG_292t1:c.5145C>T	NP_009225.1:p.Ser1715=
NM_007297.3:c.5004C>T	NP_009228.2:p.Ser1668=
NM_007298.3:c.1833C>T	NP_009229.2:p.Ser611=
NM_007299.3:c.1833C>T	NP_009230.2:p.Ser611=
NM_007300.3:c.5208C>T	NP_009231.2:p.Ser1736=
NR_027676.1:n.5281C>T
NM_007294.4:c.5145C>T MANE Select	NP_009225.1:p.Ser1715=
NM_007297.4:c.5004C>T	NP_009228.2:p.Ser1668=
NM_007299.4:c.1833C>T	NP_009230.2:p.Ser611=
NM_007300.4:c.5208C>T	NP_009231.2:p.Ser1736=
NR_027676.2:n.5322C>T