Canonical Allele Identifier: CA003236

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55397
• ClinVar RCV Id: RCV000112496 ; RCV001314422 ; RCV003884343 ; RCV002336191
• dbSNP Id: rs41293459
• MyVariant Identifiers: chr17:g.41215947C>G (hg19) ; chr17:g.43063930C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063930C>G , CM000679.2:g.43063930C>G	GRCh38
NC_000017.10:g.41215947C>G , CM000679.1:g.41215947C>G	GRCh37
NC_000017.9:g.38469473C>G	NCBI36
NG_005905.2:g.154054G>C , LRG_292:g.154054G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5093G>C	ENSP00000417241.2:p.Arg1698Pro
ENST00000470026.6:c.5096G>C	ENSP00000419274.2:p.Arg1699Pro
ENST00000473961.6:c.4970G>C	ENSP00000420201.2:p.Arg1657Pro
ENST00000476777.6:c.5090G>C	ENSP00000417554.2:p.Arg1697Pro
ENST00000477152.6:c.5018G>C	ENSP00000419988.2:p.Arg1673Pro
ENST00000478531.6:c.1784G>C	ENSP00000420412.2:p.Arg595Pro
ENST00000489037.2:c.5018G>C	ENSP00000420781.2:p.Arg1673Pro
ENST00000493919.6:c.1646G>C	ENSP00000418819.2:p.Arg549Pro
ENST00000494123.6:c.5096G>C	ENSP00000419103.2:p.Arg1699Pro
ENST00000497488.2:c.4208G>C	ENSP00000418986.2:p.Arg1403Pro
ENST00000618469.2:c.5096G>C	ENSP00000478114.2:p.Arg1699Pro
ENST00000634433.2:c.4973G>C	ENSP00000489431.2:p.Arg1658Pro
ENST00000644379.2:c.5162G>C	ENSP00000496570.2:p.Arg1721Pro
ENST00000644555.2:c.1646G>C	ENSP00000494614.2:p.Arg549Pro
ENST00000652672.2:c.4955G>C	ENSP00000498906.2:p.Arg1652Pro
ENST00000484087.6:c.1658G>C	ENSP00000419481.2:p.Arg553Pro
ENST00000357654.9:c.5096G>C MANE Select	ENSP00000350283.3:p.Arg1699Pro
ENST00000471181.7:c.5159G>C	ENSP00000418960.2:p.Arg1720Pro
ENST00000644379.1:c.1483G>C
ENST00000352993.7:c.1670G>C	ENSP00000312236.5:p.Arg557Pro
ENST00000357654.7:c.5096G>C	ENSP00000350283.3:p.Arg1699Pro
ENST00000461221.5:c.*4879G>C	ENSP00000418548.1:n.*4879G>C
ENST00000468300.5:c.1784G>C	ENSP00000417148.1:p.Arg595Pro
ENST00000471181.6:c.5159G>C	ENSP00000418960.2:p.Arg1720Pro
ENST00000478531.5:c.1784G>C	ENSP00000420412.1:p.Arg595Pro
ENST00000484087.5:c.1409G>C	ENSP00000419481.1:p.Arg470Pro
ENST00000491747.6:c.1784G>C	ENSP00000420705.2:p.Arg595Pro
ENST00000493795.5:c.4955G>C	ENSP00000418775.1:p.Arg1652Pro
ENST00000493919.5:c.1646G>C	ENSP00000418819.1:p.Arg549Pro
ENST00000586385.5:c.26G>C	ENSP00000465818.1:p.Arg9Pro
ENST00000591534.5:c.569G>C	ENSP00000467329.1:p.Arg190Pro
ENST00000591849.5:c.-98-13740G>C	ENSP00000465347.1:n.-98-13740G>C
NM_007294.3:c.5096G>C , LRG_292t1:c.5096G>C	NP_009225.1:p.Arg1699Pro
NM_007297.3:c.4955G>C	NP_009228.2:p.Arg1652Pro
NM_007298.3:c.1784G>C	NP_009229.2:p.Arg595Pro
NM_007299.3:c.1784G>C	NP_009230.2:p.Arg595Pro
NM_007300.3:c.5159G>C	NP_009231.2:p.Arg1720Pro
NR_027676.1:n.5232G>C
NM_007294.4:c.5096G>C MANE Select	NP_009225.1:p.Arg1699Pro
NM_007297.4:c.4955G>C	NP_009228.2:p.Arg1652Pro
NM_007299.4:c.1784G>C	NP_009230.2:p.Arg595Pro
NM_007300.4:c.5159G>C	NP_009231.2:p.Arg1720Pro
NR_027676.2:n.5273G>C