Canonical Allele Identifier: CA002529

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55057
• ClinVar RCV Id: RCV000112215 ; RCV003644884 ; RCV003157381
• dbSNP Id: rs80357500
• MyVariant Identifiers: chr17:g.41243604G>T (hg19) ; chr17:g.43091587G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091587G>T , CM000679.2:g.43091587G>T	GRCh38
NC_000017.10:g.41243604G>T , CM000679.1:g.41243604G>T	GRCh37
NC_000017.9:g.38497130G>T	NCBI36
NG_005905.2:g.126397C>A , LRG_292:g.126397C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.4008C>A
ENST00000461574.2:c.3944C>A	ENSP00000417241.2:p.Pro1315His
ENST00000470026.6:c.3944C>A	ENSP00000419274.2:p.Pro1315His
ENST00000473961.6:c.3818C>A	ENSP00000420201.2:p.Pro1273His
ENST00000476777.6:c.3941C>A	ENSP00000417554.2:p.Pro1314His
ENST00000477152.6:c.3866C>A	ENSP00000419988.2:p.Pro1289His
ENST00000478531.6:c.785-555C>A	ENSP00000420412.2:n.785-555C>A
ENST00000489037.2:c.3866C>A	ENSP00000420781.2:p.Pro1289His
ENST00000493919.6:c.647-555C>A	ENSP00000418819.2:n.647-555C>A
ENST00000494123.6:c.3944C>A	ENSP00000419103.2:p.Pro1315His
ENST00000497488.2:c.3056C>A	ENSP00000418986.2:p.Pro1019His
ENST00000618469.2:c.3944C>A	ENSP00000478114.2:p.Pro1315His
ENST00000634433.2:c.3821C>A	ENSP00000489431.2:p.Pro1274His
ENST00000644379.2:c.3944C>A	ENSP00000496570.2:p.Pro1315His
ENST00000644555.2:c.647-555C>A	ENSP00000494614.2:n.647-555C>A
ENST00000652672.2:c.3803C>A	ENSP00000498906.2:p.Pro1268His
ENST00000484087.6:c.665-555C>A	ENSP00000419481.2:n.665-555C>A
ENST00000700182.1:c.707-555C>A	ENSP00000514849.1:n.707-555C>A
ENST00000357654.9:c.3944C>A MANE Select	ENSP00000350283.3:p.Pro1315His
ENST00000471181.7:c.3944C>A	ENSP00000418960.2:p.Pro1315His
ENST00000644379.1:c.265C>A
ENST00000352993.7:c.671-555C>A	ENSP00000312236.5:n.671-555C>A
ENST00000354071.7:c.3944C>A	ENSP00000326002.7:p.Pro1315His
ENST00000357654.7:c.3944C>A	ENSP00000350283.3:p.Pro1315His
ENST00000461221.5:c.*3727C>A	ENSP00000418548.1:n.*3727C>A
ENST00000461574.1:c.238C>A
ENST00000468300.5:c.788-555C>A	ENSP00000417148.1:n.788-555C>A
ENST00000471181.6:c.3944C>A	ENSP00000418960.2:p.Pro1315His
ENST00000478531.5:c.785-555C>A	ENSP00000420412.1:n.785-555C>A
ENST00000484087.5:c.410-555C>A	ENSP00000419481.1:n.410-555C>A
ENST00000487825.5:c.413-555C>A	ENSP00000418212.1:n.413-555C>A
ENST00000491747.6:c.788-555C>A	ENSP00000420705.2:n.788-555C>A
ENST00000493795.5:c.3803C>A	ENSP00000418775.1:p.Pro1268His
ENST00000493919.5:c.647-555C>A	ENSP00000418819.1:n.647-555C>A
ENST00000586385.5:c.5-27636C>A	ENSP00000465818.1:n.5-27636C>A
ENST00000591534.5:c.-43-17066C>A	ENSP00000467329.1:n.-43-17066C>A
ENST00000591849.5:c.-99+33684C>A	ENSP00000465347.1:n.-99+33684C>A
NM_007294.3:c.3944C>A , LRG_292t1:c.3944C>A	NP_009225.1:p.Pro1315His
NM_007297.3:c.3803C>A	NP_009228.2:p.Pro1268His
NM_007298.3:c.788-555C>A	NP_009229.2:n.788-555C>A
NM_007299.3:c.788-555C>A	NP_009230.2:n.788-555C>A
NM_007300.3:c.3944C>A	NP_009231.2:p.Pro1315His
NR_027676.1:n.4080C>A
NM_007294.4:c.3944C>A MANE Select	NP_009225.1:p.Pro1315His
NM_007297.4:c.3803C>A	NP_009228.2:p.Pro1268His
NM_007299.4:c.788-555C>A	NP_009230.2:n.788-555C>A
NM_007300.4:c.3944C>A	NP_009231.2:p.Pro1315His
NR_027676.2:n.4121C>A