Canonical Allele Identifier: CA10593003

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41234421C>G (hg19) ; chr17:g.43082404C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082404C>G , CM000679.2:g.43082404C>G	GRCh38
NC_000017.10:g.41234421C>G , CM000679.1:g.41234421C>G	GRCh37
NC_000017.9:g.38487947C>G	NCBI36
NG_005905.2:g.135580G>C , LRG_292:g.135580G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4357G>C	ENSP00000417241.2:p.Val1453Leu
ENST00000470026.6:c.4357G>C	ENSP00000419274.2:p.Ala1453Pro
ENST00000473961.6:c.4231G>C	ENSP00000420201.2:p.Ala1411Pro
ENST00000476777.6:c.4351G>C	ENSP00000417554.2:p.Ala1451Pro
ENST00000477152.6:c.4279G>C	ENSP00000419988.2:p.Ala1427Pro
ENST00000478531.6:c.1045G>C	ENSP00000420412.2:p.Ala349Pro
ENST00000489037.2:c.4279G>C	ENSP00000420781.2:p.Ala1427Pro
ENST00000493919.6:c.907G>C	ENSP00000418819.2:p.Ala303Pro
ENST00000494123.6:c.4357G>C	ENSP00000419103.2:p.Ala1453Pro
ENST00000497488.2:c.3469G>C	ENSP00000418986.2:p.Ala1157Pro
ENST00000618469.2:c.4357G>C	ENSP00000478114.2:p.Ala1453Pro
ENST00000634433.2:c.4234G>C	ENSP00000489431.2:p.Ala1412Pro
ENST00000644379.2:c.4357G>C	ENSP00000496570.2:p.Asp1453His
ENST00000644555.2:c.907G>C	ENSP00000494614.2:p.Ala303Pro
ENST00000652672.2:c.4216G>C	ENSP00000498906.2:p.Ala1406Pro
ENST00000484087.6:c.922G>C	ENSP00000419481.2:p.Val308Leu
ENST00000700182.1:c.967G>C	ENSP00000514849.1:p.Val323Leu
ENST00000357654.9:c.4357G>C MANE Select	ENSP00000350283.3:p.Ala1453Pro
ENST00000471181.7:c.4357G>C	ENSP00000418960.2:p.Asp1453His
ENST00000644379.1:c.678G>C
ENST00000352993.7:c.931G>C	ENSP00000312236.5:p.Ala311Pro
ENST00000357654.7:c.4357G>C	ENSP00000350283.3:p.Ala1453Pro
ENST00000461221.5:c.*4140G>C	ENSP00000418548.1:n.*4140G>C
ENST00000461574.1:c.651G>C
ENST00000468300.5:c.1048G>C	ENSP00000417148.1:p.Val350Leu
ENST00000471181.6:c.4357G>C	ENSP00000418960.2:p.Asp1453His
ENST00000478531.5:c.1045G>C	ENSP00000420412.1:p.Ala349Pro
ENST00000484087.5:c.670G>C	ENSP00000419481.1:p.Ala224Pro
ENST00000487825.5:c.673G>C	ENSP00000418212.1:p.Ala225Pro
ENST00000491747.6:c.1048G>C	ENSP00000420705.2:p.Val350Leu
ENST00000493795.5:c.4216G>C	ENSP00000418775.1:p.Ala1406Pro
ENST00000493919.5:c.907G>C	ENSP00000418819.1:p.Ala303Pro
ENST00000586385.5:c.5-18453G>C	ENSP00000465818.1:n.5-18453G>C
ENST00000591534.5:c.-43-7883G>C	ENSP00000467329.1:n.-43-7883G>C
ENST00000591849.5:c.-98-32214G>C	ENSP00000465347.1:n.-98-32214G>C
ENST00000621897.1:n.251G>C
NM_007294.3:c.4357G>C , LRG_292t1:c.4357G>C	NP_009225.1:p.Ala1453Pro
NM_007297.3:c.4216G>C	NP_009228.2:p.Ala1406Pro
NM_007298.3:c.1048G>C	NP_009229.2:p.Val350Leu
NM_007299.3:c.1048G>C	NP_009230.2:p.Val350Leu
NM_007300.3:c.4357G>C	NP_009231.2:p.Asp1453His
NR_027676.1:n.4493G>C
NM_007294.4:c.4357G>C MANE Select	NP_009225.1:p.Ala1453Pro
NM_007297.4:c.4216G>C	NP_009228.2:p.Ala1406Pro
NM_007299.4:c.1048G>C	NP_009230.2:p.Val350Leu
NM_007300.4:c.4357G>C	NP_009231.2:p.Asp1453His
NR_027676.2:n.4534G>C