Canonical Allele Identifier: CA10593073

Gene: BRCA1

Linked Data

• dbSNP Id: rs2154147526
• gnomAD v4: 17-43082437-G-T
• MyVariant Identifiers: chr17:g.41234454G>T (hg19) ; chr17:g.43082437G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082437G>T , CM000679.2:g.43082437G>T	GRCh38
NC_000017.10:g.41234454G>T , CM000679.1:g.41234454G>T	GRCh37
NC_000017.9:g.38487980G>T	NCBI36
NG_005905.2:g.135547C>A , LRG_292:g.135547C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4324C>A	ENSP00000417241.2:p.Leu1442Met
ENST00000470026.6:c.4324C>A	ENSP00000419274.2:p.Leu1442Met
ENST00000473961.6:c.4198C>A	ENSP00000420201.2:p.Leu1400Met
ENST00000476777.6:c.4318C>A	ENSP00000417554.2:p.Leu1440Met
ENST00000477152.6:c.4246C>A	ENSP00000419988.2:p.Leu1416Met
ENST00000478531.6:c.1012C>A	ENSP00000420412.2:p.Leu338Met
ENST00000489037.2:c.4246C>A	ENSP00000420781.2:p.Leu1416Met
ENST00000493919.6:c.874C>A	ENSP00000418819.2:p.Leu292Met
ENST00000494123.6:c.4324C>A	ENSP00000419103.2:p.Leu1442Met
ENST00000497488.2:c.3436C>A	ENSP00000418986.2:p.Leu1146Met
ENST00000618469.2:c.4324C>A	ENSP00000478114.2:p.Leu1442Met
ENST00000634433.2:c.4201C>A	ENSP00000489431.2:p.Leu1401Met
ENST00000644379.2:c.4324C>A	ENSP00000496570.2:p.Leu1442Met
ENST00000644555.2:c.874C>A	ENSP00000494614.2:p.Leu292Met
ENST00000652672.2:c.4183C>A	ENSP00000498906.2:p.Leu1395Met
ENST00000484087.6:c.889C>A	ENSP00000419481.2:p.Leu297Met
ENST00000700182.1:c.934C>A	ENSP00000514849.1:p.Leu312Met
ENST00000357654.9:c.4324C>A MANE Select	ENSP00000350283.3:p.Leu1442Met
ENST00000471181.7:c.4324C>A	ENSP00000418960.2:p.Leu1442Met
ENST00000644379.1:c.645C>A
ENST00000352993.7:c.898C>A	ENSP00000312236.5:p.Leu300Met
ENST00000357654.7:c.4324C>A	ENSP00000350283.3:p.Leu1442Met
ENST00000461221.5:c.*4107C>A	ENSP00000418548.1:n.*4107C>A
ENST00000461574.1:c.618C>A
ENST00000468300.5:c.1015C>A	ENSP00000417148.1:p.Leu339Met
ENST00000471181.6:c.4324C>A	ENSP00000418960.2:p.Leu1442Met
ENST00000478531.5:c.1012C>A	ENSP00000420412.1:p.Leu338Met
ENST00000484087.5:c.637C>A	ENSP00000419481.1:p.Leu213Met
ENST00000487825.5:c.640C>A	ENSP00000418212.1:p.Leu214Met
ENST00000491747.6:c.1015C>A	ENSP00000420705.2:p.Leu339Met
ENST00000493795.5:c.4183C>A	ENSP00000418775.1:p.Leu1395Met
ENST00000493919.5:c.874C>A	ENSP00000418819.1:p.Leu292Met
ENST00000586385.5:c.5-18486C>A	ENSP00000465818.1:n.5-18486C>A
ENST00000591534.5:c.-43-7916C>A	ENSP00000467329.1:n.-43-7916C>A
ENST00000591849.5:c.-98-32247C>A	ENSP00000465347.1:n.-98-32247C>A
ENST00000621897.1:n.218C>A
NM_007294.3:c.4324C>A , LRG_292t1:c.4324C>A	NP_009225.1:p.Leu1442Met
NM_007297.3:c.4183C>A	NP_009228.2:p.Leu1395Met
NM_007298.3:c.1015C>A	NP_009229.2:p.Leu339Met
NM_007299.3:c.1015C>A	NP_009230.2:p.Leu339Met
NM_007300.3:c.4324C>A	NP_009231.2:p.Leu1442Met
NR_027676.1:n.4460C>A
NM_007294.4:c.4324C>A MANE Select	NP_009225.1:p.Leu1442Met
NM_007297.4:c.4183C>A	NP_009228.2:p.Leu1395Met
NM_007299.4:c.1015C>A	NP_009230.2:p.Leu339Met
NM_007300.4:c.4324C>A	NP_009231.2:p.Leu1442Met
NR_027676.2:n.4501C>A