Canonical Allele Identifier: CA10591564

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 375447
• ClinVar RCV Id: RCV000416506 ; RCV000586506 ; RCV000509960 ; RCV001077875
• dbSNP Id: rs80357401
• gnomAD v4: 17-43070933-C-T
• MyVariant Identifiers: chr17:g.41222950C>T (hg19) ; chr17:g.43070933C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4978G>A	ENSP00000417241.2:p.Glu1660Lys
ENST00000470026.6:c.4981G>A	ENSP00000419274.2:p.Glu1661Lys
ENST00000473961.6:c.4855G>A	ENSP00000420201.2:p.Glu1619Lys
ENST00000476777.6:c.4975G>A	ENSP00000417554.2:p.Glu1659Lys
ENST00000477152.6:c.4903G>A	ENSP00000419988.2:p.Glu1635Lys
ENST00000478531.6:c.1669G>A	ENSP00000420412.2:p.Glu557Lys
ENST00000489037.2:c.4903G>A	ENSP00000420781.2:p.Glu1635Lys
ENST00000493919.6:c.1531G>A	ENSP00000418819.2:p.Glu511Lys
ENST00000494123.6:c.4981G>A	ENSP00000419103.2:p.Glu1661Lys
ENST00000497488.2:c.4093G>A	ENSP00000418986.2:p.Glu1365Lys
ENST00000618469.2:c.4981G>A	ENSP00000478114.2:p.Glu1661Lys
ENST00000634433.2:c.4858G>A	ENSP00000489431.2:p.Glu1620Lys
ENST00000644379.2:c.5047G>A	ENSP00000496570.2:p.Glu1683Lys
ENST00000644555.2:c.1531G>A	ENSP00000494614.2:p.Glu511Lys
ENST00000652672.2:c.4840G>A	ENSP00000498906.2:p.Glu1614Lys
ENST00000484087.6:c.1543G>A	ENSP00000419481.2:p.Glu515Lys
ENST00000700182.1:c.1588G>A	ENSP00000514849.1:p.Glu530Lys
ENST00000357654.9:c.4981G>A MANE Select	ENSP00000350283.3:p.Glu1661Lys
ENST00000471181.7:c.5044G>A	ENSP00000418960.2:p.Glu1682Lys
ENST00000644379.1:c.1368G>A
ENST00000352993.7:c.1555G>A	ENSP00000312236.5:p.Glu519Lys
ENST00000357654.7:c.4981G>A	ENSP00000350283.3:p.Glu1661Lys
ENST00000461221.5:c.*4764G>A	ENSP00000418548.1:n.*4764G>A
ENST00000468300.5:c.1669G>A	ENSP00000417148.1:p.Glu557Lys
ENST00000471181.6:c.5044G>A	ENSP00000418960.2:p.Glu1682Lys
ENST00000472490.1:n.134G>A
ENST00000478531.5:c.1669G>A	ENSP00000420412.1:p.Glu557Lys
ENST00000484087.5:c.1294G>A	ENSP00000419481.1:p.Glu432Lys
ENST00000491747.6:c.1669G>A	ENSP00000420705.2:p.Glu557Lys
ENST00000493795.5:c.4840G>A	ENSP00000418775.1:p.Glu1614Lys
ENST00000493919.5:c.1531G>A	ENSP00000418819.1:p.Glu511Lys
ENST00000586385.5:c.5-6982G>A	ENSP00000465818.1:n.5-6982G>A
ENST00000591534.5:c.454G>A	ENSP00000467329.1:p.Glu152Lys
ENST00000591849.5:c.-98-20743G>A	ENSP00000465347.1:n.-98-20743G>A
NM_007294.3:c.4981G>A , LRG_292t1:c.4981G>A	NP_009225.1:p.Glu1661Lys
NM_007297.3:c.4840G>A	NP_009228.2:p.Glu1614Lys
NM_007298.3:c.1669G>A	NP_009229.2:p.Glu557Lys
NM_007299.3:c.1669G>A	NP_009230.2:p.Glu557Lys
NM_007300.3:c.5044G>A	NP_009231.2:p.Glu1682Lys
NR_027676.1:n.5117G>A
NM_007294.4:c.4981G>A MANE Select	NP_009225.1:p.Glu1661Lys
NM_007297.4:c.4840G>A	NP_009228.2:p.Glu1614Lys
NM_007299.4:c.1669G>A	NP_009230.2:p.Glu557Lys
NM_007300.4:c.5044G>A	NP_009231.2:p.Glu1682Lys
NR_027676.2:n.5158G>A