Canonical Allele Identifier: CA003466

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55518
• ClinVar RCV Id: RCV000112609 ; RCV001367865
• dbSNP Id: rs80357025
• MyVariant Identifiers: chr17:g.41203100G>C (hg19) ; chr17:g.43051083G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051083G>C , CM000679.2:g.43051083G>C	GRCh38
NC_000017.10:g.41203100G>C , CM000679.1:g.41203100G>C	GRCh37
NC_000017.9:g.38456626G>C	NCBI36
NG_005905.2:g.166901C>G , LRG_292:g.166901C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5309C>G	ENSP00000417241.2:p.Pro1770Arg
ENST00000470026.6:c.5312C>G	ENSP00000419274.2:p.Pro1771Arg
ENST00000473961.6:c.5186C>G	ENSP00000420201.2:p.Pro1729Arg
ENST00000476777.6:c.5306C>G	ENSP00000417554.2:p.Pro1769Arg
ENST00000477152.6:c.5234C>G	ENSP00000419988.2:p.Pro1745Arg
ENST00000478531.6:c.2000C>G	ENSP00000420412.2:p.Pro667Arg
ENST00000489037.2:c.5234C>G	ENSP00000420781.2:p.Pro1745Arg
ENST00000493919.6:c.1862C>G	ENSP00000418819.2:p.Pro621Arg
ENST00000494123.6:c.5312C>G	ENSP00000419103.2:p.Pro1771Arg
ENST00000497488.2:c.4424C>G	ENSP00000418986.2:p.Pro1475Arg
ENST00000618469.2:c.5312C>G	ENSP00000478114.2:p.Pro1771Arg
ENST00000634433.2:c.5189C>G	ENSP00000489431.2:p.Pro1730Arg
ENST00000644379.2:c.5378C>G	ENSP00000496570.2:p.Pro1793Arg
ENST00000644555.2:c.1862C>G	ENSP00000494614.2:p.Pro621Arg
ENST00000652672.2:c.5171C>G	ENSP00000498906.2:p.Pro1724Arg
ENST00000484087.6:c.1874C>G	ENSP00000419481.2:p.Pro625Arg
ENST00000357654.9:c.5312C>G MANE Select	ENSP00000350283.3:p.Pro1771Arg
ENST00000471181.7:c.5375C>G	ENSP00000418960.2:p.Pro1792Arg
ENST00000644379.1:c.1699C>G
ENST00000352993.7:c.1886C>G	ENSP00000312236.5:p.Pro629Arg
ENST00000357654.7:c.5312C>G	ENSP00000350283.3:p.Pro1771Arg
ENST00000461221.5:c.*5095C>G	ENSP00000418548.1:n.*5095C>G
ENST00000468300.5:c.2000C>G	ENSP00000417148.1:p.Pro667Arg
ENST00000471181.6:c.5375C>G	ENSP00000418960.2:p.Pro1792Arg
ENST00000491747.6:c.2000C>G	ENSP00000420705.2:p.Pro667Arg
ENST00000493795.5:c.5171C>G	ENSP00000418775.1:p.Pro1724Arg
ENST00000586385.5:c.242C>G	ENSP00000465818.1:p.Pro81Arg
ENST00000591534.5:c.785C>G	ENSP00000467329.1:p.Pro262Arg
ENST00000591849.5:c.-98-893C>G	ENSP00000465347.1:n.-98-893C>G
NM_007294.3:c.5312C>G , LRG_292t1:c.5312C>G	NP_009225.1:p.Pro1771Arg
NM_007297.3:c.5171C>G	NP_009228.2:p.Pro1724Arg
NM_007298.3:c.2000C>G	NP_009229.2:p.Pro667Arg
NM_007299.3:c.2000C>G	NP_009230.2:p.Pro667Arg
NM_007300.3:c.5375C>G	NP_009231.2:p.Pro1792Arg
NR_027676.1:n.5448C>G
NM_007294.4:c.5312C>G MANE Select	NP_009225.1:p.Pro1771Arg
NM_007297.4:c.5171C>G	NP_009228.2:p.Pro1724Arg
NM_007299.4:c.2000C>G	NP_009230.2:p.Pro667Arg
NM_007300.4:c.5375C>G	NP_009231.2:p.Pro1792Arg
NR_027676.2:n.5489C>G