Canonical Allele Identifier: CA10591703

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 422707
• ClinVar RCV Id: RCV000478837 ; RCV001039099 ; RCV001073141 ; RCV002350073
• dbSNP Id: rs80357048
• MyVariant Identifiers: chr17:g.41223021G>T (hg19) ; chr17:g.43071004G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071004G>T , CM000679.2:g.43071004G>T	GRCh38
NC_000017.10:g.41223021G>T , CM000679.1:g.41223021G>T	GRCh37
NC_000017.9:g.38476547G>T	NCBI36
NG_005905.2:g.146980C>A , LRG_292:g.146980C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4907C>A	ENSP00000417241.2:p.Pro1636Gln
ENST00000470026.6:c.4910C>A	ENSP00000419274.2:p.Pro1637Gln
ENST00000473961.6:c.4784C>A	ENSP00000420201.2:p.Pro1595Gln
ENST00000476777.6:c.4904C>A	ENSP00000417554.2:p.Pro1635Gln
ENST00000477152.6:c.4832C>A	ENSP00000419988.2:p.Pro1611Gln
ENST00000478531.6:c.1598C>A	ENSP00000420412.2:p.Pro533Gln
ENST00000489037.2:c.4832C>A	ENSP00000420781.2:p.Pro1611Gln
ENST00000493919.6:c.1460C>A	ENSP00000418819.2:p.Pro487Gln
ENST00000494123.6:c.4910C>A	ENSP00000419103.2:p.Pro1637Gln
ENST00000497488.2:c.4022C>A	ENSP00000418986.2:p.Pro1341Gln
ENST00000618469.2:c.4910C>A	ENSP00000478114.2:p.Pro1637Gln
ENST00000634433.2:c.4787C>A	ENSP00000489431.2:p.Pro1596Gln
ENST00000644379.2:c.4976C>A	ENSP00000496570.2:p.Pro1659Gln
ENST00000644555.2:c.1460C>A	ENSP00000494614.2:p.Pro487Gln
ENST00000652672.2:c.4769C>A	ENSP00000498906.2:p.Pro1590Gln
ENST00000484087.6:c.1472C>A	ENSP00000419481.2:p.Pro491Gln
ENST00000700182.1:c.1517C>A	ENSP00000514849.1:p.Pro506Gln
ENST00000357654.9:c.4910C>A MANE Select	ENSP00000350283.3:p.Pro1637Gln
ENST00000471181.7:c.4973C>A	ENSP00000418960.2:p.Pro1658Gln
ENST00000644379.1:c.1297C>A
ENST00000352993.7:c.1484C>A	ENSP00000312236.5:p.Pro495Gln
ENST00000357654.7:c.4910C>A	ENSP00000350283.3:p.Pro1637Gln
ENST00000461221.5:c.*4693C>A	ENSP00000418548.1:n.*4693C>A
ENST00000468300.5:c.1598C>A	ENSP00000417148.1:p.Pro533Gln
ENST00000471181.6:c.4973C>A	ENSP00000418960.2:p.Pro1658Gln
ENST00000472490.1:n.63C>A
ENST00000478531.5:c.1598C>A	ENSP00000420412.1:p.Pro533Gln
ENST00000484087.5:c.1223C>A	ENSP00000419481.1:p.Pro408Gln
ENST00000491747.6:c.1598C>A	ENSP00000420705.2:p.Pro533Gln
ENST00000493795.5:c.4769C>A	ENSP00000418775.1:p.Pro1590Gln
ENST00000493919.5:c.1460C>A	ENSP00000418819.1:p.Pro487Gln
ENST00000586385.5:c.5-7053C>A	ENSP00000465818.1:n.5-7053C>A
ENST00000591534.5:c.383C>A	ENSP00000467329.1:p.Pro128Gln
ENST00000591849.5:c.-98-20814C>A	ENSP00000465347.1:n.-98-20814C>A
NM_007294.3:c.4910C>A , LRG_292t1:c.4910C>A	NP_009225.1:p.Pro1637Gln
NM_007297.3:c.4769C>A	NP_009228.2:p.Pro1590Gln
NM_007298.3:c.1598C>A	NP_009229.2:p.Pro533Gln
NM_007299.3:c.1598C>A	NP_009230.2:p.Pro533Gln
NM_007300.3:c.4973C>A	NP_009231.2:p.Pro1658Gln
NR_027676.1:n.5046C>A
NM_007294.4:c.4910C>A MANE Select	NP_009225.1:p.Pro1637Gln
NM_007297.4:c.4769C>A	NP_009228.2:p.Pro1590Gln
NM_007299.4:c.1598C>A	NP_009230.2:p.Pro533Gln
NM_007300.4:c.4973C>A	NP_009231.2:p.Pro1658Gln
NR_027676.2:n.5087C>A