Canonical Allele Identifier: CA10591797

Gene: BRCA1

Linked Data

• dbSNP Id: rs786202026
• MyVariant Identifiers: chr17:g.41223067T>A (hg19) ; chr17:g.43071050T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071050T>A , CM000679.2:g.43071050T>A	GRCh38
NC_000017.10:g.41223067T>A , CM000679.1:g.41223067T>A	GRCh37
NC_000017.9:g.38476593T>A	NCBI36
NG_005905.2:g.146934A>T , LRG_292:g.146934A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4861A>T	ENSP00000417241.2:p.Thr1621Ser
ENST00000470026.6:c.4864A>T	ENSP00000419274.2:p.Thr1622Ser
ENST00000473961.6:c.4738A>T	ENSP00000420201.2:p.Thr1580Ser
ENST00000476777.6:c.4858A>T	ENSP00000417554.2:p.Thr1620Ser
ENST00000477152.6:c.4786A>T	ENSP00000419988.2:p.Thr1596Ser
ENST00000478531.6:c.1552A>T	ENSP00000420412.2:p.Thr518Ser
ENST00000489037.2:c.4786A>T	ENSP00000420781.2:p.Thr1596Ser
ENST00000493919.6:c.1414A>T	ENSP00000418819.2:p.Thr472Ser
ENST00000494123.6:c.4864A>T	ENSP00000419103.2:p.Thr1622Ser
ENST00000497488.2:c.3976A>T	ENSP00000418986.2:p.Thr1326Ser
ENST00000618469.2:c.4864A>T	ENSP00000478114.2:p.Thr1622Ser
ENST00000634433.2:c.4741A>T	ENSP00000489431.2:p.Thr1581Ser
ENST00000644379.2:c.4930A>T	ENSP00000496570.2:p.Thr1644Ser
ENST00000644555.2:c.1414A>T	ENSP00000494614.2:p.Thr472Ser
ENST00000652672.2:c.4723A>T	ENSP00000498906.2:p.Thr1575Ser
ENST00000484087.6:c.1426A>T	ENSP00000419481.2:p.Thr476Ser
ENST00000700182.1:c.1471A>T	ENSP00000514849.1:p.Thr491Ser
ENST00000357654.9:c.4864A>T MANE Select	ENSP00000350283.3:p.Thr1622Ser
ENST00000471181.7:c.4927A>T	ENSP00000418960.2:p.Thr1643Ser
ENST00000644379.1:c.1251A>T
ENST00000352993.7:c.1438A>T	ENSP00000312236.5:p.Thr480Ser
ENST00000357654.7:c.4864A>T	ENSP00000350283.3:p.Thr1622Ser
ENST00000461221.5:c.*4647A>T	ENSP00000418548.1:n.*4647A>T
ENST00000468300.5:c.1552A>T	ENSP00000417148.1:p.Thr518Ser
ENST00000471181.6:c.4927A>T	ENSP00000418960.2:p.Thr1643Ser
ENST00000472490.1:n.17A>T
ENST00000478531.5:c.1552A>T	ENSP00000420412.1:p.Thr518Ser
ENST00000484087.5:c.1177A>T	ENSP00000419481.1:p.Thr393Ser
ENST00000491747.6:c.1552A>T	ENSP00000420705.2:p.Thr518Ser
ENST00000493795.5:c.4723A>T	ENSP00000418775.1:p.Thr1575Ser
ENST00000493919.5:c.1414A>T	ENSP00000418819.1:p.Thr472Ser
ENST00000586385.5:c.5-7099A>T	ENSP00000465818.1:n.5-7099A>T
ENST00000591534.5:c.337A>T	ENSP00000467329.1:p.Thr113Ser
ENST00000591849.5:c.-98-20860A>T	ENSP00000465347.1:n.-98-20860A>T
NM_007294.3:c.4864A>T , LRG_292t1:c.4864A>T	NP_009225.1:p.Thr1622Ser
NM_007297.3:c.4723A>T	NP_009228.2:p.Thr1575Ser
NM_007298.3:c.1552A>T	NP_009229.2:p.Thr518Ser
NM_007299.3:c.1552A>T	NP_009230.2:p.Thr518Ser
NM_007300.3:c.4927A>T	NP_009231.2:p.Thr1643Ser
NR_027676.1:n.5000A>T
NM_007294.4:c.4864A>T MANE Select	NP_009225.1:p.Thr1622Ser
NM_007297.4:c.4723A>T	NP_009228.2:p.Thr1575Ser
NM_007299.4:c.1552A>T	NP_009230.2:p.Thr518Ser
NM_007300.4:c.4927A>T	NP_009231.2:p.Thr1643Ser
NR_027676.2:n.5041A>T