Canonical Allele Identifier: CA129996086

Gene: G3BP1

Linked Data

• dbSNP Id: rs551648836
• gnomAD v2: 5-151184601-T-C
• gnomAD v3: 5-151805040-T-C
• gnomAD v4: 5-151805040-T-C
• MyVariant Identifiers: chr5:g.151184601T>C (hg19) ; chr5:g.151805040T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151805040T>C , CM000667.2:g.151805040T>C	GRCh38
NC_000005.9:g.151184601T>C , CM000667.1:g.151184601T>C	GRCh37
NC_000005.8:g.151164794T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356245.8:c.*949T>C MANE Select	ENSP00000348578.3:n.*949T>C
ENST00000520177.6:c.*1136T>C	ENSP00000427810.2:n.*1136T>C
ENST00000676634.1:n.721T>C
ENST00000676644.1:c.*2327T>C	ENSP00000504249.1:n.*2327T>C
ENST00000676715.1:c.857T>C
ENST00000676734.1:c.562+594T>C	ENSP00000504327.1:n.562+594T>C
ENST00000676878.1:c.562+594T>C	ENSP00000504118.1:n.562+594T>C
ENST00000676899.1:c.745T>C
ENST00000676911.1:n.719T>C
ENST00000676978.1:c.*706T>C	ENSP00000503939.1:n.*706T>C
ENST00000677323.1:c.*949T>C	ENSP00000502880.1:n.*949T>C
ENST00000677381.1:c.*1890T>C	ENSP00000504403.1:n.*1890T>C
ENST00000677493.1:c.*1425T>C	ENSP00000504786.1:n.*1425T>C
ENST00000677687.1:c.133-451T>C	ENSP00000504281.1:n.133-451T>C
ENST00000677757.1:n.4200T>C
ENST00000677923.1:c.*1388T>C	ENSP00000504573.1:n.*1388T>C
ENST00000678295.1:c.954T>C	ENSP00000503775.1:n.954T>C
ENST00000678646.1:c.*949T>C	ENSP00000504525.1:n.*949T>C
ENST00000678657.1:c.878T>C	ENSP00000504393.1:n.878T>C
ENST00000678854.1:c.*401T>C	ENSP00000503080.1:n.*401T>C
ENST00000678904.1:n.2729T>C
ENST00000678910.1:c.*685T>C	ENSP00000503654.1:n.*685T>C
ENST00000678925.1:c.*685T>C	ENSP00000503699.1:n.*685T>C
ENST00000678964.1:c.*1416T>C	ENSP00000503385.1:n.*1416T>C
ENST00000679289.1:c.*1954T>C	ENSP00000504039.1:n.*1954T>C
ENST00000356245.7:c.*949T>C	ENSP00000348578.3:n.*949T>C
ENST00000394123.7:c.*949T>C	ENSP00000377681.3:n.*949T>C
ENST00000520177.5:c.*1890T>C	ENSP00000427810.1:n.*1890T>C
NM_005754.2:c.*949T>C	NP_005745.1:n.*949T>C
NM_198395.1:c.*949T>C	NP_938405.1:n.*949T>C
XM_006714749.2:c.*949T>C	XP_006714812.1:n.*949T>C
XM_006714750.2:c.*949T>C	XP_006714813.1:n.*949T>C
NM_005754.3:c.*949T>C MANE Select	NP_005745.1:n.*949T>C
NM_198395.2:c.*949T>C	NP_938405.1:n.*949T>C