Canonical Allele Identifier: CA10593320

Gene: BRCA1

Linked Data

• dbSNP Id: rs374416358
• MyVariant Identifiers: chr17:g.41234578C>A (hg19) ; chr17:g.43082561C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082561C>A , CM000679.2:g.43082561C>A	GRCh38
NC_000017.10:g.41234578C>A , CM000679.1:g.41234578C>A	GRCh37
NC_000017.9:g.38488104C>A	NCBI36
NG_005905.2:g.135423G>T , LRG_292:g.135423G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4200G>T	ENSP00000417241.2:p.Met1400Ile
ENST00000470026.6:c.4200G>T	ENSP00000419274.2:p.Met1400Ile
ENST00000473961.6:c.4074G>T	ENSP00000420201.2:p.Met1358Ile
ENST00000476777.6:c.4194G>T	ENSP00000417554.2:p.Met1398Ile
ENST00000477152.6:c.4122G>T	ENSP00000419988.2:p.Met1374Ile
ENST00000478531.6:c.888G>T	ENSP00000420412.2:p.Met296Ile
ENST00000489037.2:c.4122G>T	ENSP00000420781.2:p.Met1374Ile
ENST00000493919.6:c.750G>T	ENSP00000418819.2:p.Met250Ile
ENST00000494123.6:c.4200G>T	ENSP00000419103.2:p.Met1400Ile
ENST00000497488.2:c.3312G>T	ENSP00000418986.2:p.Met1104Ile
ENST00000618469.2:c.4200G>T	ENSP00000478114.2:p.Met1400Ile
ENST00000634433.2:c.4077G>T	ENSP00000489431.2:p.Met1359Ile
ENST00000644379.2:c.4200G>T	ENSP00000496570.2:p.Met1400Ile
ENST00000644555.2:c.750G>T	ENSP00000494614.2:p.Met250Ile
ENST00000652672.2:c.4059G>T	ENSP00000498906.2:p.Met1353Ile
ENST00000484087.6:c.765G>T	ENSP00000419481.2:p.Met255Ile
ENST00000700182.1:c.810G>T	ENSP00000514849.1:p.Met270Ile
ENST00000357654.9:c.4200G>T MANE Select	ENSP00000350283.3:p.Met1400Ile
ENST00000471181.7:c.4200G>T	ENSP00000418960.2:p.Met1400Ile
ENST00000644379.1:c.521G>T
ENST00000352993.7:c.774G>T	ENSP00000312236.5:p.Met258Ile
ENST00000357654.7:c.4200G>T	ENSP00000350283.3:p.Met1400Ile
ENST00000461221.5:c.*3983G>T	ENSP00000418548.1:n.*3983G>T
ENST00000461574.1:c.494G>T
ENST00000468300.5:c.891G>T	ENSP00000417148.1:p.Met297Ile
ENST00000471181.6:c.4200G>T	ENSP00000418960.2:p.Met1400Ile
ENST00000478531.5:c.888G>T	ENSP00000420412.1:p.Met296Ile
ENST00000484087.5:c.513G>T	ENSP00000419481.1:p.Met171Ile
ENST00000487825.5:c.516G>T	ENSP00000418212.1:p.Met172Ile
ENST00000491747.6:c.891G>T	ENSP00000420705.2:p.Met297Ile
ENST00000493795.5:c.4059G>T	ENSP00000418775.1:p.Met1353Ile
ENST00000493919.5:c.750G>T	ENSP00000418819.1:p.Met250Ile
ENST00000586385.5:c.5-18610G>T	ENSP00000465818.1:n.5-18610G>T
ENST00000591534.5:c.-43-8040G>T	ENSP00000467329.1:n.-43-8040G>T
ENST00000591849.5:c.-98-32371G>T	ENSP00000465347.1:n.-98-32371G>T
ENST00000621897.1:n.94G>T
NM_007294.3:c.4200G>T , LRG_292t1:c.4200G>T	NP_009225.1:p.Met1400Ile
NM_007297.3:c.4059G>T	NP_009228.2:p.Met1353Ile
NM_007298.3:c.891G>T	NP_009229.2:p.Met297Ile
NM_007299.3:c.891G>T	NP_009230.2:p.Met297Ile
NM_007300.3:c.4200G>T	NP_009231.2:p.Met1400Ile
NR_027676.1:n.4336G>T
NM_007294.4:c.4200G>T MANE Select	NP_009225.1:p.Met1400Ile
NM_007297.4:c.4059G>T	NP_009228.2:p.Met1353Ile
NM_007299.4:c.891G>T	NP_009230.2:p.Met297Ile
NM_007300.4:c.4200G>T	NP_009231.2:p.Met1400Ile
NR_027676.2:n.4377G>T