Canonical Allele Identifier: CA002904

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55227
• ClinVar RCV Id: RCV000112710 ; RCV000496612 ; RCV001298223 ; RCV000566935 ; RCV001558020
• dbSNP Id: rs80357275
• ExAC: 17:41251884 A / G
• gnomAD v2: 17-41251884-A-G
• gnomAD v3: 17-43099867-A-G
• gnomAD v4: 17-43099867-A-G
• MyVariant Identifiers: chr17:g.41251884A>G (hg19) ; chr17:g.43099867A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43099867A>G , CM000679.2:g.43099867A>G	GRCh38
NC_000017.10:g.41251884A>G , CM000679.1:g.41251884A>G	GRCh37
NC_000017.9:g.38505410A>G	NCBI36
NG_005905.2:g.118117T>C , LRG_292:g.118117T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.519T>C
ENST00000461574.2:c.455T>C	ENSP00000417241.2:p.Leu152Pro
ENST00000470026.6:c.455T>C	ENSP00000419274.2:p.Leu152Pro
ENST00000473961.6:c.452T>C	ENSP00000420201.2:p.Leu151Pro
ENST00000476777.6:c.452T>C	ENSP00000417554.2:p.Leu151Pro
ENST00000477152.6:c.377T>C	ENSP00000419988.2:p.Leu126Pro
ENST00000478531.6:c.452T>C	ENSP00000420412.2:p.Leu151Pro
ENST00000489037.2:c.377T>C	ENSP00000420781.2:p.Leu126Pro
ENST00000493919.6:c.314T>C	ENSP00000418819.2:p.Leu105Pro
ENST00000494123.6:c.455T>C	ENSP00000419103.2:p.Leu152Pro
ENST00000497488.2:c.-218-5007T>C	ENSP00000418986.2:n.-218-5007T>C
ENST00000618469.2:c.455T>C	ENSP00000478114.2:p.Leu152Pro
ENST00000634433.2:c.455T>C	ENSP00000489431.2:p.Leu152Pro
ENST00000644379.2:c.455T>C	ENSP00000496570.2:p.Leu152Pro
ENST00000644555.2:c.314T>C	ENSP00000494614.2:p.Leu105Pro
ENST00000652672.2:c.314T>C	ENSP00000498906.2:p.Leu105Pro
ENST00000484087.6:c.455T>C	ENSP00000419481.2:p.Leu152Pro
ENST00000700182.1:c.374T>C	ENSP00000514849.1:p.Leu125Pro
ENST00000700183.1:c.*369T>C	ENSP00000514850.1:n.*369T>C
ENST00000700184.1:n.695T>C
ENST00000357654.9:c.455T>C MANE Select	ENSP00000350283.3:p.Leu152Pro
ENST00000471181.7:c.455T>C	ENSP00000418960.2:p.Leu152Pro
ENST00000642945.1:c.*329T>C	ENSP00000495897.1:n.*329T>C
ENST00000652672.1:c.314T>C	ENSP00000498906.1:p.Leu105Pro
ENST00000352993.7:c.455T>C	ENSP00000312236.5:p.Leu152Pro
ENST00000354071.7:c.455T>C	ENSP00000326002.7:p.Leu152Pro
ENST00000357654.7:c.455T>C	ENSP00000350283.3:p.Leu152Pro
ENST00000461221.5:c.*238T>C	ENSP00000418548.1:n.*238T>C
ENST00000461798.5:c.*241T>C	ENSP00000417988.1:n.*241T>C
ENST00000468300.5:c.455T>C	ENSP00000417148.1:p.Leu152Pro
ENST00000470026.5:c.455T>C	ENSP00000419274.1:p.Leu152Pro
ENST00000471181.6:c.455T>C	ENSP00000418960.2:p.Leu152Pro
ENST00000473961.5:c.175T>C
ENST00000476777.5:c.452T>C	ENSP00000417554.1:p.Leu151Pro
ENST00000477152.5:c.377T>C	ENSP00000419988.1:p.Leu126Pro
ENST00000478531.5:c.452T>C	ENSP00000420412.1:p.Leu151Pro
ENST00000484087.5:c.200T>C	ENSP00000419481.1:p.Leu67Pro
ENST00000487825.5:c.203T>C	ENSP00000418212.1:p.Leu68Pro
ENST00000491747.6:c.455T>C	ENSP00000420705.2:p.Leu152Pro
ENST00000492859.5:c.*391T>C	ENSP00000420253.1:n.*391T>C
ENST00000493795.5:c.314T>C	ENSP00000418775.1:p.Leu105Pro
ENST00000493919.5:c.314T>C	ENSP00000418819.1:p.Leu105Pro
ENST00000494123.5:c.455T>C	ENSP00000419103.1:p.Leu152Pro
ENST00000497488.1:c.-218-5007T>C	ENSP00000418986.1:n.-218-5007T>C
ENST00000586385.5:c.4+25315T>C	ENSP00000465818.1:n.4+25315T>C
ENST00000591534.5:c.-43-25346T>C	ENSP00000467329.1:n.-43-25346T>C
ENST00000591849.5:c.-99+25404T>C	ENSP00000465347.1:n.-99+25404T>C
ENST00000634433.1:c.455T>C	ENSP00000489431.1:p.Leu152Pro
NM_007294.3:c.455T>C , LRG_292t1:c.455T>C	NP_009225.1:p.Leu152Pro
NM_007297.3:c.314T>C	NP_009228.2:p.Leu105Pro
NM_007298.3:c.455T>C	NP_009229.2:p.Leu152Pro
NM_007299.3:c.455T>C	NP_009230.2:p.Leu152Pro
NM_007300.3:c.455T>C	NP_009231.2:p.Leu152Pro
NR_027676.1:n.591T>C
NM_007294.4:c.455T>C MANE Select	NP_009225.1:p.Leu152Pro
NM_007297.4:c.314T>C	NP_009228.2:p.Leu105Pro
NM_007299.4:c.455T>C	NP_009230.2:p.Leu152Pro
NM_007300.4:c.455T>C	NP_009231.2:p.Leu152Pro
NR_027676.2:n.632T>C