Canonical Allele Identifier: CA10593174

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1739278
• ClinVar RCV Id: RCV002330053
• MyVariant Identifiers: chr17:g.41234504G>A (hg19) ; chr17:g.43082487G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082487G>A , CM000679.2:g.43082487G>A	GRCh38
NC_000017.10:g.41234504G>A , CM000679.1:g.41234504G>A	GRCh37
NC_000017.9:g.38488030G>A	NCBI36
NG_005905.2:g.135497C>T , LRG_292:g.135497C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4274C>T	ENSP00000417241.2:p.Pro1425Leu
ENST00000470026.6:c.4274C>T	ENSP00000419274.2:p.Pro1425Leu
ENST00000473961.6:c.4148C>T	ENSP00000420201.2:p.Pro1383Leu
ENST00000476777.6:c.4268C>T	ENSP00000417554.2:p.Pro1423Leu
ENST00000477152.6:c.4196C>T	ENSP00000419988.2:p.Pro1399Leu
ENST00000478531.6:c.962C>T	ENSP00000420412.2:p.Pro321Leu
ENST00000489037.2:c.4196C>T	ENSP00000420781.2:p.Pro1399Leu
ENST00000493919.6:c.824C>T	ENSP00000418819.2:p.Pro275Leu
ENST00000494123.6:c.4274C>T	ENSP00000419103.2:p.Pro1425Leu
ENST00000497488.2:c.3386C>T	ENSP00000418986.2:p.Pro1129Leu
ENST00000618469.2:c.4274C>T	ENSP00000478114.2:p.Pro1425Leu
ENST00000634433.2:c.4151C>T	ENSP00000489431.2:p.Pro1384Leu
ENST00000644379.2:c.4274C>T	ENSP00000496570.2:p.Pro1425Leu
ENST00000644555.2:c.824C>T	ENSP00000494614.2:p.Pro275Leu
ENST00000652672.2:c.4133C>T	ENSP00000498906.2:p.Pro1378Leu
ENST00000484087.6:c.839C>T	ENSP00000419481.2:p.Pro280Leu
ENST00000700182.1:c.884C>T	ENSP00000514849.1:p.Pro295Leu
ENST00000357654.9:c.4274C>T MANE Select	ENSP00000350283.3:p.Pro1425Leu
ENST00000471181.7:c.4274C>T	ENSP00000418960.2:p.Pro1425Leu
ENST00000644379.1:c.595C>T
ENST00000352993.7:c.848C>T	ENSP00000312236.5:p.Pro283Leu
ENST00000357654.7:c.4274C>T	ENSP00000350283.3:p.Pro1425Leu
ENST00000461221.5:c.*4057C>T	ENSP00000418548.1:n.*4057C>T
ENST00000461574.1:c.568C>T
ENST00000468300.5:c.965C>T	ENSP00000417148.1:p.Pro322Leu
ENST00000471181.6:c.4274C>T	ENSP00000418960.2:p.Pro1425Leu
ENST00000478531.5:c.962C>T	ENSP00000420412.1:p.Pro321Leu
ENST00000484087.5:c.587C>T	ENSP00000419481.1:p.Pro196Leu
ENST00000487825.5:c.590C>T	ENSP00000418212.1:p.Pro197Leu
ENST00000491747.6:c.965C>T	ENSP00000420705.2:p.Pro322Leu
ENST00000493795.5:c.4133C>T	ENSP00000418775.1:p.Pro1378Leu
ENST00000493919.5:c.824C>T	ENSP00000418819.1:p.Pro275Leu
ENST00000586385.5:c.5-18536C>T	ENSP00000465818.1:n.5-18536C>T
ENST00000591534.5:c.-43-7966C>T	ENSP00000467329.1:n.-43-7966C>T
ENST00000591849.5:c.-98-32297C>T	ENSP00000465347.1:n.-98-32297C>T
ENST00000621897.1:n.168C>T
NM_007294.3:c.4274C>T , LRG_292t1:c.4274C>T	NP_009225.1:p.Pro1425Leu
NM_007297.3:c.4133C>T	NP_009228.2:p.Pro1378Leu
NM_007298.3:c.965C>T	NP_009229.2:p.Pro322Leu
NM_007299.3:c.965C>T	NP_009230.2:p.Pro322Leu
NM_007300.3:c.4274C>T	NP_009231.2:p.Pro1425Leu
NR_027676.1:n.4410C>T
NM_007294.4:c.4274C>T MANE Select	NP_009225.1:p.Pro1425Leu
NM_007297.4:c.4133C>T	NP_009228.2:p.Pro1378Leu
NM_007299.4:c.965C>T	NP_009230.2:p.Pro322Leu
NM_007300.4:c.4274C>T	NP_009231.2:p.Pro1425Leu
NR_027676.2:n.4451C>T