Canonical Allele Identifier: CA003087

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 142312
• ClinVar RCV Id: RCV000131365 ; RCV000255486 ; RCV000410761 ; RCV000589552 ; RCV001081541
• dbSNP Id: rs70953661
• ExAC: 17:41222997 C / G
• gnomAD v2: 17-41222997-C-G
• gnomAD v3: 17-43070980-C-G
• gnomAD v4: 17-43070980-C-G
• MyVariant Identifiers: chr17:g.41222997C>G (hg19) ; chr17:g.43070980C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070980C>G , CM000679.2:g.43070980C>G	GRCh38
NC_000017.10:g.41222997C>G , CM000679.1:g.41222997C>G	GRCh37
NC_000017.9:g.38476523C>G	NCBI36
NG_005905.2:g.147004G>C , LRG_292:g.147004G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4931G>C	ENSP00000417241.2:p.Arg1644Thr
ENST00000470026.6:c.4934G>C	ENSP00000419274.2:p.Arg1645Thr
ENST00000473961.6:c.4808G>C	ENSP00000420201.2:p.Arg1603Thr
ENST00000476777.6:c.4928G>C	ENSP00000417554.2:p.Arg1643Thr
ENST00000477152.6:c.4856G>C	ENSP00000419988.2:p.Arg1619Thr
ENST00000478531.6:c.1622G>C	ENSP00000420412.2:p.Arg541Thr
ENST00000489037.2:c.4856G>C	ENSP00000420781.2:p.Arg1619Thr
ENST00000493919.6:c.1484G>C	ENSP00000418819.2:p.Arg495Thr
ENST00000494123.6:c.4934G>C	ENSP00000419103.2:p.Arg1645Thr
ENST00000497488.2:c.4046G>C	ENSP00000418986.2:p.Arg1349Thr
ENST00000618469.2:c.4934G>C	ENSP00000478114.2:p.Arg1645Thr
ENST00000634433.2:c.4811G>C	ENSP00000489431.2:p.Arg1604Thr
ENST00000644379.2:c.5000G>C	ENSP00000496570.2:p.Arg1667Thr
ENST00000644555.2:c.1484G>C	ENSP00000494614.2:p.Arg495Thr
ENST00000652672.2:c.4793G>C	ENSP00000498906.2:p.Arg1598Thr
ENST00000484087.6:c.1496G>C	ENSP00000419481.2:p.Arg499Thr
ENST00000700182.1:c.1541G>C	ENSP00000514849.1:p.Arg514Thr
ENST00000357654.9:c.4934G>C MANE Select	ENSP00000350283.3:p.Arg1645Thr
ENST00000471181.7:c.4997G>C	ENSP00000418960.2:p.Arg1666Thr
ENST00000644379.1:c.1321G>C
ENST00000352993.7:c.1508G>C	ENSP00000312236.5:p.Arg503Thr
ENST00000357654.7:c.4934G>C	ENSP00000350283.3:p.Arg1645Thr
ENST00000461221.5:c.*4717G>C	ENSP00000418548.1:n.*4717G>C
ENST00000468300.5:c.1622G>C	ENSP00000417148.1:p.Arg541Thr
ENST00000471181.6:c.4997G>C	ENSP00000418960.2:p.Arg1666Thr
ENST00000472490.1:n.87G>C
ENST00000478531.5:c.1622G>C	ENSP00000420412.1:p.Arg541Thr
ENST00000484087.5:c.1247G>C	ENSP00000419481.1:p.Arg416Thr
ENST00000491747.6:c.1622G>C	ENSP00000420705.2:p.Arg541Thr
ENST00000493795.5:c.4793G>C	ENSP00000418775.1:p.Arg1598Thr
ENST00000493919.5:c.1484G>C	ENSP00000418819.1:p.Arg495Thr
ENST00000586385.5:c.5-7029G>C	ENSP00000465818.1:n.5-7029G>C
ENST00000591534.5:c.407G>C	ENSP00000467329.1:p.Arg136Thr
ENST00000591849.5:c.-98-20790G>C	ENSP00000465347.1:n.-98-20790G>C
NM_007294.3:c.4934G>C , LRG_292t1:c.4934G>C	NP_009225.1:p.Arg1645Thr
NM_007297.3:c.4793G>C	NP_009228.2:p.Arg1598Thr
NM_007298.3:c.1622G>C	NP_009229.2:p.Arg541Thr
NM_007299.3:c.1622G>C	NP_009230.2:p.Arg541Thr
NM_007300.3:c.4997G>C	NP_009231.2:p.Arg1666Thr
NR_027676.1:n.5070G>C
NM_007294.4:c.4934G>C MANE Select	NP_009225.1:p.Arg1645Thr
NM_007297.4:c.4793G>C	NP_009228.2:p.Arg1598Thr
NM_007299.4:c.1622G>C	NP_009230.2:p.Arg541Thr
NM_007300.4:c.4997G>C	NP_009231.2:p.Arg1666Thr
NR_027676.2:n.5111G>C