Canonical Allele Identifier: CA003116

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55338
• ClinVar RCV Id: RCV000112440 ; RCV000574935 ; RCV001380796
• dbSNP Id: rs80357401
• MyVariant Identifiers: chr17:g.41222950C>A (hg19) ; chr17:g.43070933C>A (hg38)
• PubMed: PMID:15117986 ; PMID:16455195 ; PMID:22798144 ; PMID:25863477

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070933C>A , CM000679.2:g.43070933C>A	GRCh38
NC_000017.10:g.41222950C>A , CM000679.1:g.41222950C>A	GRCh37
NC_000017.9:g.38476476C>A	NCBI36
NG_005905.2:g.147051G>T , LRG_292:g.147051G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4978G>T	ENSP00000417241.2:p.Glu1660Ter
ENST00000470026.6:c.4981G>T	ENSP00000419274.2:p.Glu1661Ter
ENST00000473961.6:c.4855G>T	ENSP00000420201.2:p.Glu1619Ter
ENST00000476777.6:c.4975G>T	ENSP00000417554.2:p.Glu1659Ter
ENST00000477152.6:c.4903G>T	ENSP00000419988.2:p.Glu1635Ter
ENST00000478531.6:c.1669G>T	ENSP00000420412.2:p.Glu557Ter
ENST00000489037.2:c.4903G>T	ENSP00000420781.2:p.Glu1635Ter
ENST00000493919.6:c.1531G>T	ENSP00000418819.2:p.Glu511Ter
ENST00000494123.6:c.4981G>T	ENSP00000419103.2:p.Glu1661Ter
ENST00000497488.2:c.4093G>T	ENSP00000418986.2:p.Glu1365Ter
ENST00000618469.2:c.4981G>T	ENSP00000478114.2:p.Glu1661Ter
ENST00000634433.2:c.4858G>T	ENSP00000489431.2:p.Glu1620Ter
ENST00000644379.2:c.5047G>T	ENSP00000496570.2:p.Glu1683Ter
ENST00000644555.2:c.1531G>T	ENSP00000494614.2:p.Glu511Ter
ENST00000652672.2:c.4840G>T	ENSP00000498906.2:p.Glu1614Ter
ENST00000484087.6:c.1543G>T	ENSP00000419481.2:p.Glu515Ter
ENST00000700182.1:c.1588G>T	ENSP00000514849.1:p.Glu530Ter
ENST00000357654.9:c.4981G>T MANE Select	ENSP00000350283.3:p.Glu1661Ter
ENST00000471181.7:c.5044G>T	ENSP00000418960.2:p.Glu1682Ter
ENST00000644379.1:c.1368G>T
ENST00000352993.7:c.1555G>T	ENSP00000312236.5:p.Glu519Ter
ENST00000357654.7:c.4981G>T	ENSP00000350283.3:p.Glu1661Ter
ENST00000461221.5:c.*4764G>T	ENSP00000418548.1:n.*4764G>T
ENST00000468300.5:c.1669G>T	ENSP00000417148.1:p.Glu557Ter
ENST00000471181.6:c.5044G>T	ENSP00000418960.2:p.Glu1682Ter
ENST00000472490.1:n.134G>T
ENST00000478531.5:c.1669G>T	ENSP00000420412.1:p.Glu557Ter
ENST00000484087.5:c.1294G>T	ENSP00000419481.1:p.Glu432Ter
ENST00000491747.6:c.1669G>T	ENSP00000420705.2:p.Glu557Ter
ENST00000493795.5:c.4840G>T	ENSP00000418775.1:p.Glu1614Ter
ENST00000493919.5:c.1531G>T	ENSP00000418819.1:p.Glu511Ter
ENST00000586385.5:c.5-6982G>T	ENSP00000465818.1:n.5-6982G>T
ENST00000591534.5:c.454G>T	ENSP00000467329.1:p.Glu152Ter
ENST00000591849.5:c.-98-20743G>T	ENSP00000465347.1:n.-98-20743G>T
NM_007294.3:c.4981G>T , LRG_292t1:c.4981G>T	NP_009225.1:p.Glu1661Ter
NM_007297.3:c.4840G>T	NP_009228.2:p.Glu1614Ter
NM_007298.3:c.1669G>T	NP_009229.2:p.Glu557Ter
NM_007299.3:c.1669G>T	NP_009230.2:p.Glu557Ter
NM_007300.3:c.5044G>T	NP_009231.2:p.Glu1682Ter
NR_027676.1:n.5117G>T
NM_007294.4:c.4981G>T MANE Select	NP_009225.1:p.Glu1661Ter
NM_007297.4:c.4840G>T	NP_009228.2:p.Glu1614Ter
NM_007299.4:c.1669G>T	NP_009230.2:p.Glu557Ter
NM_007300.4:c.5044G>T	NP_009231.2:p.Glu1682Ter
NR_027676.2:n.5158G>T