Canonical Allele Identifier: CA10580506

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 232788
• ClinVar RCV Id: RCV000215187 ; RCV001073140 ; RCV001320785
• dbSNP Id: rs876659989
• MyVariant Identifiers: chr17:g.41223022G>A (hg19) ; chr17:g.43071005G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071005G>A , CM000679.2:g.43071005G>A	GRCh38
NC_000017.10:g.41223022G>A , CM000679.1:g.41223022G>A	GRCh37
NC_000017.9:g.38476548G>A	NCBI36
NG_005905.2:g.146979C>T , LRG_292:g.146979C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4906C>T	ENSP00000417241.2:p.Pro1636Ser
ENST00000470026.6:c.4909C>T	ENSP00000419274.2:p.Pro1637Ser
ENST00000473961.6:c.4783C>T	ENSP00000420201.2:p.Pro1595Ser
ENST00000476777.6:c.4903C>T	ENSP00000417554.2:p.Pro1635Ser
ENST00000477152.6:c.4831C>T	ENSP00000419988.2:p.Pro1611Ser
ENST00000478531.6:c.1597C>T	ENSP00000420412.2:p.Pro533Ser
ENST00000489037.2:c.4831C>T	ENSP00000420781.2:p.Pro1611Ser
ENST00000493919.6:c.1459C>T	ENSP00000418819.2:p.Pro487Ser
ENST00000494123.6:c.4909C>T	ENSP00000419103.2:p.Pro1637Ser
ENST00000497488.2:c.4021C>T	ENSP00000418986.2:p.Pro1341Ser
ENST00000618469.2:c.4909C>T	ENSP00000478114.2:p.Pro1637Ser
ENST00000634433.2:c.4786C>T	ENSP00000489431.2:p.Pro1596Ser
ENST00000644379.2:c.4975C>T	ENSP00000496570.2:p.Pro1659Ser
ENST00000644555.2:c.1459C>T	ENSP00000494614.2:p.Pro487Ser
ENST00000652672.2:c.4768C>T	ENSP00000498906.2:p.Pro1590Ser
ENST00000484087.6:c.1471C>T	ENSP00000419481.2:p.Pro491Ser
ENST00000700182.1:c.1516C>T	ENSP00000514849.1:p.Pro506Ser
ENST00000357654.9:c.4909C>T MANE Select	ENSP00000350283.3:p.Pro1637Ser
ENST00000471181.7:c.4972C>T	ENSP00000418960.2:p.Pro1658Ser
ENST00000644379.1:c.1296C>T
ENST00000352993.7:c.1483C>T	ENSP00000312236.5:p.Pro495Ser
ENST00000357654.7:c.4909C>T	ENSP00000350283.3:p.Pro1637Ser
ENST00000461221.5:c.*4692C>T	ENSP00000418548.1:n.*4692C>T
ENST00000468300.5:c.1597C>T	ENSP00000417148.1:p.Pro533Ser
ENST00000471181.6:c.4972C>T	ENSP00000418960.2:p.Pro1658Ser
ENST00000472490.1:n.62C>T
ENST00000478531.5:c.1597C>T	ENSP00000420412.1:p.Pro533Ser
ENST00000484087.5:c.1222C>T	ENSP00000419481.1:p.Pro408Ser
ENST00000491747.6:c.1597C>T	ENSP00000420705.2:p.Pro533Ser
ENST00000493795.5:c.4768C>T	ENSP00000418775.1:p.Pro1590Ser
ENST00000493919.5:c.1459C>T	ENSP00000418819.1:p.Pro487Ser
ENST00000586385.5:c.5-7054C>T	ENSP00000465818.1:n.5-7054C>T
ENST00000591534.5:c.382C>T	ENSP00000467329.1:p.Pro128Ser
ENST00000591849.5:c.-98-20815C>T	ENSP00000465347.1:n.-98-20815C>T
NM_007294.3:c.4909C>T , LRG_292t1:c.4909C>T	NP_009225.1:p.Pro1637Ser
NM_007297.3:c.4768C>T	NP_009228.2:p.Pro1590Ser
NM_007298.3:c.1597C>T	NP_009229.2:p.Pro533Ser
NM_007299.3:c.1597C>T	NP_009230.2:p.Pro533Ser
NM_007300.3:c.4972C>T	NP_009231.2:p.Pro1658Ser
NR_027676.1:n.5045C>T
NM_007294.4:c.4909C>T MANE Select	NP_009225.1:p.Pro1637Ser
NM_007297.4:c.4768C>T	NP_009228.2:p.Pro1590Ser
NM_007299.4:c.1597C>T	NP_009230.2:p.Pro533Ser
NM_007300.4:c.4972C>T	NP_009231.2:p.Pro1658Ser
NR_027676.2:n.5086C>T