Canonical Allele Identifier: CA805712342

Gene: G3BP1

Linked Data

• dbSNP Id: rs1251087437
• gnomAD v3: 5-151804988-C-G
• gnomAD v4: 5-151804988-C-G
• MyVariant Identifiers: chr5:g.151184549C>G (hg19) ; chr5:g.151804988C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151804988C>G , CM000667.2:g.151804988C>G	GRCh38
NC_000005.9:g.151184549C>G , CM000667.1:g.151184549C>G	GRCh37
NC_000005.8:g.151164742C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356245.8:c.*897C>G MANE Select	ENSP00000348578.3:n.*897C>G
ENST00000520177.6:c.*1084C>G	ENSP00000427810.2:n.*1084C>G
ENST00000676634.1:n.669C>G
ENST00000676644.1:c.*2275C>G	ENSP00000504249.1:n.*2275C>G
ENST00000676715.1:c.805C>G
ENST00000676734.1:c.562+542C>G	ENSP00000504327.1:n.562+542C>G
ENST00000676878.1:c.562+542C>G	ENSP00000504118.1:n.562+542C>G
ENST00000676899.1:c.693C>G
ENST00000676911.1:n.667C>G
ENST00000676978.1:c.*654C>G	ENSP00000503939.1:n.*654C>G
ENST00000677323.1:c.*897C>G	ENSP00000502880.1:n.*897C>G
ENST00000677381.1:c.*1838C>G	ENSP00000504403.1:n.*1838C>G
ENST00000677493.1:c.*1373C>G	ENSP00000504786.1:n.*1373C>G
ENST00000677687.1:c.133-503C>G	ENSP00000504281.1:n.133-503C>G
ENST00000677757.1:n.4148C>G
ENST00000677923.1:c.*1336C>G	ENSP00000504573.1:n.*1336C>G
ENST00000678295.1:c.902C>G	ENSP00000503775.1:n.902C>G
ENST00000678646.1:c.*897C>G	ENSP00000504525.1:n.*897C>G
ENST00000678657.1:c.826C>G	ENSP00000504393.1:n.826C>G
ENST00000678854.1:c.*349C>G	ENSP00000503080.1:n.*349C>G
ENST00000678904.1:n.2677C>G
ENST00000678910.1:c.*633C>G	ENSP00000503654.1:n.*633C>G
ENST00000678925.1:c.*633C>G	ENSP00000503699.1:n.*633C>G
ENST00000678964.1:c.*1364C>G	ENSP00000503385.1:n.*1364C>G
ENST00000679289.1:c.*1902C>G	ENSP00000504039.1:n.*1902C>G
ENST00000356245.7:c.*897C>G	ENSP00000348578.3:n.*897C>G
ENST00000394123.7:c.*897C>G	ENSP00000377681.3:n.*897C>G
ENST00000520177.5:c.*1838C>G	ENSP00000427810.1:n.*1838C>G
NM_005754.2:c.*897C>G	NP_005745.1:n.*897C>G
NM_198395.1:c.*897C>G	NP_938405.1:n.*897C>G
XM_006714749.2:c.*897C>G	XP_006714812.1:n.*897C>G
XM_006714750.2:c.*897C>G	XP_006714813.1:n.*897C>G
NM_005754.3:c.*897C>G MANE Select	NP_005745.1:n.*897C>G
NM_198395.2:c.*897C>G	NP_938405.1:n.*897C>G