Canonical Allele Identifier: CA10591798

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41223067T>G (hg19) ; chr17:g.43071050T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4861A>C	ENSP00000417241.2:p.Thr1621Pro
ENST00000470026.6:c.4864A>C	ENSP00000419274.2:p.Thr1622Pro
ENST00000473961.6:c.4738A>C	ENSP00000420201.2:p.Thr1580Pro
ENST00000476777.6:c.4858A>C	ENSP00000417554.2:p.Thr1620Pro
ENST00000477152.6:c.4786A>C	ENSP00000419988.2:p.Thr1596Pro
ENST00000478531.6:c.1552A>C	ENSP00000420412.2:p.Thr518Pro
ENST00000489037.2:c.4786A>C	ENSP00000420781.2:p.Thr1596Pro
ENST00000493919.6:c.1414A>C	ENSP00000418819.2:p.Thr472Pro
ENST00000494123.6:c.4864A>C	ENSP00000419103.2:p.Thr1622Pro
ENST00000497488.2:c.3976A>C	ENSP00000418986.2:p.Thr1326Pro
ENST00000618469.2:c.4864A>C	ENSP00000478114.2:p.Thr1622Pro
ENST00000634433.2:c.4741A>C	ENSP00000489431.2:p.Thr1581Pro
ENST00000644379.2:c.4930A>C	ENSP00000496570.2:p.Thr1644Pro
ENST00000644555.2:c.1414A>C	ENSP00000494614.2:p.Thr472Pro
ENST00000652672.2:c.4723A>C	ENSP00000498906.2:p.Thr1575Pro
ENST00000484087.6:c.1426A>C	ENSP00000419481.2:p.Thr476Pro
ENST00000700182.1:c.1471A>C	ENSP00000514849.1:p.Thr491Pro
ENST00000357654.9:c.4864A>C MANE Select	ENSP00000350283.3:p.Thr1622Pro
ENST00000471181.7:c.4927A>C	ENSP00000418960.2:p.Thr1643Pro
ENST00000644379.1:c.1251A>C
ENST00000352993.7:c.1438A>C	ENSP00000312236.5:p.Thr480Pro
ENST00000357654.7:c.4864A>C	ENSP00000350283.3:p.Thr1622Pro
ENST00000461221.5:c.*4647A>C	ENSP00000418548.1:n.*4647A>C
ENST00000468300.5:c.1552A>C	ENSP00000417148.1:p.Thr518Pro
ENST00000471181.6:c.4927A>C	ENSP00000418960.2:p.Thr1643Pro
ENST00000472490.1:n.17A>C
ENST00000478531.5:c.1552A>C	ENSP00000420412.1:p.Thr518Pro
ENST00000484087.5:c.1177A>C	ENSP00000419481.1:p.Thr393Pro
ENST00000491747.6:c.1552A>C	ENSP00000420705.2:p.Thr518Pro
ENST00000493795.5:c.4723A>C	ENSP00000418775.1:p.Thr1575Pro
ENST00000493919.5:c.1414A>C	ENSP00000418819.1:p.Thr472Pro
ENST00000586385.5:c.5-7099A>C	ENSP00000465818.1:n.5-7099A>C
ENST00000591534.5:c.337A>C	ENSP00000467329.1:p.Thr113Pro
ENST00000591849.5:c.-98-20860A>C	ENSP00000465347.1:n.-98-20860A>C
NM_007294.3:c.4864A>C , LRG_292t1:c.4864A>C	NP_009225.1:p.Thr1622Pro
NM_007297.3:c.4723A>C	NP_009228.2:p.Thr1575Pro
NM_007298.3:c.1552A>C	NP_009229.2:p.Thr518Pro
NM_007299.3:c.1552A>C	NP_009230.2:p.Thr518Pro
NM_007300.3:c.4927A>C	NP_009231.2:p.Thr1643Pro
NR_027676.1:n.5000A>C
NM_007294.4:c.4864A>C MANE Select	NP_009225.1:p.Thr1622Pro
NM_007297.4:c.4723A>C	NP_009228.2:p.Thr1575Pro
NM_007299.4:c.1552A>C	NP_009230.2:p.Thr518Pro
NM_007300.4:c.4927A>C	NP_009231.2:p.Thr1643Pro
NR_027676.2:n.5041A>C