Canonical Allele Identifier: CA10592440

Gene: BRCA1

Linked Data

• dbSNP Id: rs2154016701
• MyVariant Identifiers: chr17:g.41226485C>G (hg19) ; chr17:g.43074468C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074468C>G , CM000679.2:g.43074468C>G	GRCh38
NC_000017.10:g.41226485C>G , CM000679.1:g.41226485C>G	GRCh37
NC_000017.9:g.38480011C>G	NCBI36
NG_005905.2:g.143516G>C , LRG_292:g.143516G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4535G>C	ENSP00000417241.2:p.Cys1512Ser
ENST00000470026.6:c.4538G>C	ENSP00000419274.2:p.Cys1513Ser
ENST00000473961.6:c.4412G>C	ENSP00000420201.2:p.Cys1471Ser
ENST00000476777.6:c.4532G>C	ENSP00000417554.2:p.Cys1511Ser
ENST00000477152.6:c.4460G>C	ENSP00000419988.2:p.Cys1487Ser
ENST00000478531.6:c.1226G>C	ENSP00000420412.2:p.Cys409Ser
ENST00000489037.2:c.4460G>C	ENSP00000420781.2:p.Cys1487Ser
ENST00000493919.6:c.1088G>C	ENSP00000418819.2:p.Cys363Ser
ENST00000494123.6:c.4538G>C	ENSP00000419103.2:p.Cys1513Ser
ENST00000497488.2:c.3650G>C	ENSP00000418986.2:p.Cys1217Ser
ENST00000618469.2:c.4538G>C	ENSP00000478114.2:p.Cys1513Ser
ENST00000634433.2:c.4415G>C	ENSP00000489431.2:p.Cys1472Ser
ENST00000644379.2:c.4604G>C	ENSP00000496570.2:p.Cys1535Ser
ENST00000644555.2:c.1088G>C	ENSP00000494614.2:p.Cys363Ser
ENST00000652672.2:c.4397G>C	ENSP00000498906.2:p.Cys1466Ser
ENST00000484087.6:c.1100G>C	ENSP00000419481.2:p.Cys367Ser
ENST00000700182.1:c.1145G>C	ENSP00000514849.1:p.Cys382Ser
ENST00000357654.9:c.4538G>C MANE Select	ENSP00000350283.3:p.Cys1513Ser
ENST00000471181.7:c.4601G>C	ENSP00000418960.2:p.Cys1534Ser
ENST00000644379.1:c.925G>C
ENST00000352993.7:c.1112G>C	ENSP00000312236.5:p.Cys371Ser
ENST00000357654.7:c.4538G>C	ENSP00000350283.3:p.Cys1513Ser
ENST00000461221.5:c.*4321G>C	ENSP00000418548.1:n.*4321G>C
ENST00000468300.5:c.1226G>C	ENSP00000417148.1:p.Cys409Ser
ENST00000471181.6:c.4601G>C	ENSP00000418960.2:p.Cys1534Ser
ENST00000478531.5:c.1226G>C	ENSP00000420412.1:p.Cys409Ser
ENST00000484087.5:c.851G>C	ENSP00000419481.1:p.Cys284Ser
ENST00000491747.6:c.1226G>C	ENSP00000420705.2:p.Cys409Ser
ENST00000493795.5:c.4397G>C	ENSP00000418775.1:p.Cys1466Ser
ENST00000493919.5:c.1088G>C	ENSP00000418819.1:p.Cys363Ser
ENST00000586385.5:c.5-10517G>C	ENSP00000465818.1:n.5-10517G>C
ENST00000591534.5:c.11G>C	ENSP00000467329.1:p.Cys4Ser
ENST00000591849.5:c.-98-24278G>C	ENSP00000465347.1:n.-98-24278G>C
NM_007294.3:c.4538G>C , LRG_292t1:c.4538G>C	NP_009225.1:p.Cys1513Ser
NM_007297.3:c.4397G>C	NP_009228.2:p.Cys1466Ser
NM_007298.3:c.1226G>C	NP_009229.2:p.Cys409Ser
NM_007299.3:c.1226G>C	NP_009230.2:p.Cys409Ser
NM_007300.3:c.4601G>C	NP_009231.2:p.Cys1534Ser
NR_027676.1:n.4674G>C
NM_007294.4:c.4538G>C MANE Select	NP_009225.1:p.Cys1513Ser
NM_007297.4:c.4397G>C	NP_009228.2:p.Cys1466Ser
NM_007299.4:c.1226G>C	NP_009230.2:p.Cys409Ser
NM_007300.4:c.4601G>C	NP_009231.2:p.Cys1534Ser
NR_027676.2:n.4715G>C