Canonical Allele Identifier: CA115229

Gene: SUGCT

Linked Data

• ClinVar Variation Id: 1850
• ClinVar RCV Id: RCV000001924
• dbSNP Id: rs137852861
• ExAC: 7:40277263 C / T
• gnomAD v2: 7-40277263-C-T
• gnomAD v3: 7-40237664-C-T
• gnomAD v4: 7-40237664-C-T
• MyVariant Identifiers: chr7:g.40277263C>T (hg19) ; chr7:g.40237664C>T (hg38)
• PubMed: PMID:18926513

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.40237664C>T , CM000669.2:g.40237664C>T	GRCh38
NC_000007.13:g.40277263C>T , CM000669.1:g.40277263C>T	GRCh37
NC_000007.12:g.40243788C>T	NCBI36
NG_023422.1:g.107689C>T
NG_023422.2:g.107689C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000335693.9:c.514C>T MANE Select	ENSP00000338475.5:p.Arg172Ter
ENST00000401647.7:c.514C>T	ENSP00000385222.3:p.Arg172Ter
ENST00000416370.2:c.514C>T	ENSP00000393032.2:p.Arg172Ter
ENST00000628514.3:c.514C>T	ENSP00000486291.2:p.Arg172Ter
ENST00000335693.8:c.535C>T	ENSP00000338475.4:p.Arg179Ter
ENST00000401647.6:c.535C>T	ENSP00000385222.2:p.Arg179Ter
ENST00000416370.1:c.519C>T
ENST00000628514.2:c.535C>T	ENSP00000486291.1:p.Arg179Ter
NM_001193311.1:c.535C>T	NP_001180240.1:p.Arg179Ter
NM_001193312.1:c.535C>T	NP_001180241.1:p.Arg179Ter
NM_001193313.1:c.535C>T	NP_001180242.1:p.Arg179Ter
NM_024728.2:c.424C>T	NP_079004.1:p.Arg142Ter
XM_006715775.2:c.535C>T	XP_006715838.1:p.Arg179Ter
XM_011515525.1:c.535C>T	XP_011513827.1:p.Arg179Ter
XM_011515526.1:c.457C>T	XP_011513828.1:p.Arg153Ter
XM_011515527.1:c.535C>T	XP_011513829.1:p.Arg179Ter
XM_011515528.1:c.535C>T	XP_011513830.1:p.Arg179Ter
XM_011515529.1:c.535C>T	XP_011513831.1:p.Arg179Ter
XM_011515530.1:c.535C>T	XP_011513832.1:p.Arg179Ter
XM_006715775.3:c.535C>T	XP_006715838.1:p.Arg179Ter
XM_011515525.3:c.535C>T	XP_011513827.1:p.Arg179Ter
XM_011515526.2:c.457C>T	XP_011513828.1:p.Arg153Ter
XM_011515527.3:c.535C>T	XP_011513829.1:p.Arg179Ter
XM_011515528.3:c.535C>T	XP_011513830.1:p.Arg179Ter
XM_011515529.3:c.535C>T	XP_011513831.1:p.Arg179Ter
XM_011515530.3:c.535C>T	XP_011513832.1:p.Arg179Ter
XM_017012621.1:c.412C>T	XP_016868110.1:p.Arg138Ter
XM_017012622.2:c.535C>T	XP_016868111.1:p.Arg179Ter
NM_001193311.2:c.514C>T	NP_001180240.2:p.Arg172Ter
NM_001193312.2:c.514C>T	NP_001180241.2:p.Arg172Ter
NM_001193313.2:c.514C>T MANE Select	NP_001180242.2:p.Arg172Ter
NM_024728.3:c.403C>T	NP_079004.2:p.Arg135Ter