Canonical Allele Identifier: CA002888

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 185183
• ClinVar RCV Id: RCV000164552 ; RCV000554945
• dbSNP Id: rs56335406
• gnomAD v4: 17-43074501-G-T
• MyVariant Identifiers: chr17:g.41226518G>T (hg19) ; chr17:g.43074501G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074501G>T , CM000679.2:g.43074501G>T	GRCh38
NC_000017.10:g.41226518G>T , CM000679.1:g.41226518G>T	GRCh37
NC_000017.9:g.38480044G>T	NCBI36
NG_005905.2:g.143483C>A , LRG_292:g.143483C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4502C>A	ENSP00000417241.2:p.Pro1501Gln
ENST00000470026.6:c.4505C>A	ENSP00000419274.2:p.Pro1502Gln
ENST00000473961.6:c.4379C>A	ENSP00000420201.2:p.Pro1460Gln
ENST00000476777.6:c.4499C>A	ENSP00000417554.2:p.Pro1500Gln
ENST00000477152.6:c.4427C>A	ENSP00000419988.2:p.Pro1476Gln
ENST00000478531.6:c.1193C>A	ENSP00000420412.2:p.Pro398Gln
ENST00000489037.2:c.4427C>A	ENSP00000420781.2:p.Pro1476Gln
ENST00000493919.6:c.1055C>A	ENSP00000418819.2:p.Pro352Gln
ENST00000494123.6:c.4505C>A	ENSP00000419103.2:p.Pro1502Gln
ENST00000497488.2:c.3617C>A	ENSP00000418986.2:p.Pro1206Gln
ENST00000618469.2:c.4505C>A	ENSP00000478114.2:p.Pro1502Gln
ENST00000634433.2:c.4382C>A	ENSP00000489431.2:p.Pro1461Gln
ENST00000644379.2:c.4571C>A	ENSP00000496570.2:p.Pro1524Gln
ENST00000644555.2:c.1055C>A	ENSP00000494614.2:p.Pro352Gln
ENST00000652672.2:c.4364C>A	ENSP00000498906.2:p.Pro1455Gln
ENST00000484087.6:c.1067C>A	ENSP00000419481.2:p.Pro356Gln
ENST00000700182.1:c.1112C>A	ENSP00000514849.1:p.Pro371Gln
ENST00000357654.9:c.4505C>A MANE Select	ENSP00000350283.3:p.Pro1502Gln
ENST00000471181.7:c.4568C>A	ENSP00000418960.2:p.Pro1523Gln
ENST00000644379.1:c.892C>A
ENST00000352993.7:c.1079C>A	ENSP00000312236.5:p.Pro360Gln
ENST00000357654.7:c.4505C>A	ENSP00000350283.3:p.Pro1502Gln
ENST00000461221.5:c.*4288C>A	ENSP00000418548.1:n.*4288C>A
ENST00000468300.5:c.1193C>A	ENSP00000417148.1:p.Pro398Gln
ENST00000471181.6:c.4568C>A	ENSP00000418960.2:p.Pro1523Gln
ENST00000478531.5:c.1193C>A	ENSP00000420412.1:p.Pro398Gln
ENST00000484087.5:c.818C>A	ENSP00000419481.1:p.Pro273Gln
ENST00000491747.6:c.1193C>A	ENSP00000420705.2:p.Pro398Gln
ENST00000493795.5:c.4364C>A	ENSP00000418775.1:p.Pro1455Gln
ENST00000493919.5:c.1055C>A	ENSP00000418819.1:p.Pro352Gln
ENST00000586385.5:c.5-10550C>A	ENSP00000465818.1:n.5-10550C>A
ENST00000591534.5:c.-23C>A	ENSP00000467329.1:n.-23C>A
ENST00000591849.5:c.-98-24311C>A	ENSP00000465347.1:n.-98-24311C>A
NM_007294.3:c.4505C>A , LRG_292t1:c.4505C>A	NP_009225.1:p.Pro1502Gln
NM_007297.3:c.4364C>A	NP_009228.2:p.Pro1455Gln
NM_007298.3:c.1193C>A	NP_009229.2:p.Pro398Gln
NM_007299.3:c.1193C>A	NP_009230.2:p.Pro398Gln
NM_007300.3:c.4568C>A	NP_009231.2:p.Pro1523Gln
NR_027676.1:n.4641C>A
NM_007294.4:c.4505C>A MANE Select	NP_009225.1:p.Pro1502Gln
NM_007297.4:c.4364C>A	NP_009228.2:p.Pro1455Gln
NM_007299.4:c.1193C>A	NP_009230.2:p.Pro398Gln
NM_007300.4:c.4568C>A	NP_009231.2:p.Pro1523Gln
NR_027676.2:n.4682C>A