Canonical Allele Identifier: CA2733655725
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs1003412989

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43071299G>C , CM000679.2:g.43071299G>C GRCh38
NC_000017.10:g.41223316G>C , CM000679.1:g.41223316G>C GRCh37
NC_000017.9:g.38476842G>C NCBI36
NG_005905.2:g.146685C>G , LRG_292:g.146685C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4673-61C>G ENSP00000417241.2:n.4673-61C>G
ENST00000470026.6:c.4676-61C>G ENSP00000419274.2:n.4676-61C>G
ENST00000473961.6:c.4550-61C>G ENSP00000420201.2:n.4550-61C>G
ENST00000476777.6:c.4670-61C>G ENSP00000417554.2:n.4670-61C>G
ENST00000477152.6:c.4598-61C>G ENSP00000419988.2:n.4598-61C>G
ENST00000478531.6:c.1364-61C>G ENSP00000420412.2:n.1364-61C>G
ENST00000489037.2:c.4598-61C>G ENSP00000420781.2:n.4598-61C>G
ENST00000493919.6:c.1226-61C>G ENSP00000418819.2:n.1226-61C>G
ENST00000494123.6:c.4676-61C>G ENSP00000419103.2:n.4676-61C>G
ENST00000497488.2:c.3788-61C>G ENSP00000418986.2:n.3788-61C>G
ENST00000618469.2:c.4676-61C>G ENSP00000478114.2:n.4676-61C>G
ENST00000634433.2:c.4553-61C>G ENSP00000489431.2:n.4553-61C>G
ENST00000644379.2:c.4742-61C>G ENSP00000496570.2:n.4742-61C>G
ENST00000644555.2:c.1226-61C>G ENSP00000494614.2:n.1226-61C>G
ENST00000652672.2:c.4535-61C>G ENSP00000498906.2:n.4535-61C>G
ENST00000484087.6:c.1238-61C>G ENSP00000419481.2:n.1238-61C>G
ENST00000700182.1:c.1283-61C>G ENSP00000514849.1:n.1283-61C>G
ENST00000357654.9:c.4676-61C>G MANE Select ENSP00000350283.3:n.4676-61C>G
ENST00000471181.7:c.4739-61C>G ENSP00000418960.2:n.4739-61C>G
ENST00000644379.1:c.1063-61C>G
ENST00000352993.7:c.1250-61C>G ENSP00000312236.5:n.1250-61C>G
ENST00000357654.7:c.4676-61C>G ENSP00000350283.3:n.4676-61C>G
ENST00000461221.5:c.*4459-61C>G ENSP00000418548.1:n.*4459-61C>G
ENST00000468300.5:c.1364-61C>G ENSP00000417148.1:n.1364-61C>G
ENST00000471181.6:c.4739-61C>G ENSP00000418960.2:n.4739-61C>G
ENST00000478531.5:c.1364-61C>G ENSP00000420412.1:n.1364-61C>G
ENST00000484087.5:c.989-61C>G ENSP00000419481.1:n.989-61C>G
ENST00000491747.6:c.1364-61C>G ENSP00000420705.2:n.1364-61C>G
ENST00000493795.5:c.4535-61C>G ENSP00000418775.1:n.4535-61C>G
ENST00000493919.5:c.1226-61C>G ENSP00000418819.1:n.1226-61C>G
ENST00000586385.5:c.5-7348C>G ENSP00000465818.1:n.5-7348C>G
ENST00000591534.5:c.149-61C>G ENSP00000467329.1:n.149-61C>G
ENST00000591849.5:c.-98-21109C>G ENSP00000465347.1:n.-98-21109C>G
NM_007294.3:c.4676-61C>G , LRG_292t1:c.4676-61C>G NP_009225.1:n.4676-61C>G
NM_007297.3:c.4535-61C>G NP_009228.2:n.4535-61C>G
NM_007298.3:c.1364-61C>G NP_009229.2:n.1364-61C>G
NM_007299.3:c.1364-61C>G NP_009230.2:n.1364-61C>G
NM_007300.3:c.4739-61C>G NP_009231.2:n.4739-61C>G
NR_027676.1:n.4812-61C>G
NM_007294.4:c.4676-61C>G MANE Select NP_009225.1:n.4676-61C>G
NM_007297.4:c.4535-61C>G NP_009228.2:n.4535-61C>G
NM_007299.4:c.1364-61C>G NP_009230.2:n.1364-61C>G
NM_007300.4:c.4739-61C>G NP_009231.2:n.4739-61C>G
NR_027676.2:n.4853-61C>G