Canonical Allele Identifier: CA129996080

Gene: G3BP1

Linked Data

• dbSNP Id: rs926850713
• gnomAD v2: 5-151184545-A-G
• gnomAD v3: 5-151804984-A-G
• gnomAD v4: 5-151804984-A-G
• MyVariant Identifiers: chr5:g.151184545A>G (hg19) ; chr5:g.151804984A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151804984A>G , CM000667.2:g.151804984A>G	GRCh38
NC_000005.9:g.151184545A>G , CM000667.1:g.151184545A>G	GRCh37
NC_000005.8:g.151164738A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356245.8:c.*893A>G MANE Select	ENSP00000348578.3:n.*893A>G
ENST00000520177.6:c.*1080A>G	ENSP00000427810.2:n.*1080A>G
ENST00000676634.1:n.665A>G
ENST00000676644.1:c.*2271A>G	ENSP00000504249.1:n.*2271A>G
ENST00000676715.1:c.801A>G
ENST00000676734.1:c.562+538A>G	ENSP00000504327.1:n.562+538A>G
ENST00000676878.1:c.562+538A>G	ENSP00000504118.1:n.562+538A>G
ENST00000676899.1:c.689A>G
ENST00000676911.1:n.663A>G
ENST00000676978.1:c.*650A>G	ENSP00000503939.1:n.*650A>G
ENST00000677323.1:c.*893A>G	ENSP00000502880.1:n.*893A>G
ENST00000677381.1:c.*1834A>G	ENSP00000504403.1:n.*1834A>G
ENST00000677493.1:c.*1369A>G	ENSP00000504786.1:n.*1369A>G
ENST00000677687.1:c.133-507A>G	ENSP00000504281.1:n.133-507A>G
ENST00000677757.1:n.4144A>G
ENST00000677923.1:c.*1332A>G	ENSP00000504573.1:n.*1332A>G
ENST00000678295.1:c.898A>G	ENSP00000503775.1:n.898A>G
ENST00000678646.1:c.*893A>G	ENSP00000504525.1:n.*893A>G
ENST00000678657.1:c.822A>G	ENSP00000504393.1:n.822A>G
ENST00000678854.1:c.*345A>G	ENSP00000503080.1:n.*345A>G
ENST00000678904.1:n.2673A>G
ENST00000678910.1:c.*629A>G	ENSP00000503654.1:n.*629A>G
ENST00000678925.1:c.*629A>G	ENSP00000503699.1:n.*629A>G
ENST00000678964.1:c.*1360A>G	ENSP00000503385.1:n.*1360A>G
ENST00000679289.1:c.*1898A>G	ENSP00000504039.1:n.*1898A>G
ENST00000356245.7:c.*893A>G	ENSP00000348578.3:n.*893A>G
ENST00000394123.7:c.*893A>G	ENSP00000377681.3:n.*893A>G
ENST00000520177.5:c.*1834A>G	ENSP00000427810.1:n.*1834A>G
NM_005754.2:c.*893A>G	NP_005745.1:n.*893A>G
NM_198395.1:c.*893A>G	NP_938405.1:n.*893A>G
XM_006714749.2:c.*893A>G	XP_006714812.1:n.*893A>G
XM_006714750.2:c.*893A>G	XP_006714813.1:n.*893A>G
NM_005754.3:c.*893A>G MANE Select	NP_005745.1:n.*893A>G
NM_198395.2:c.*893A>G	NP_938405.1:n.*893A>G