Canonical Allele Identifier: CA184469277
Gene: TRPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2040569
ClinVar RCV Id: RCV002886482
dbSNP Id: rs969364116

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.115414191A>T , CM000670.2:g.115414191A>T GRCh38
NC_000008.10:g.116426419A>T , CM000670.1:g.116426419A>T GRCh37
NC_000008.9:g.116495595A>T NCBI36
NG_012383.3:g.259811T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395715.8:c.3717T>A MANE Select ENSP00000379065.3:p.Asp1239Glu
ENST00000640765.1:c.3678T>A ENSP00000492037.1:p.Asp1226Glu
ENST00000220888.9:c.3678T>A ENSP00000220888.5:p.Asp1226Glu
ENST00000395715.7:c.3717T>A ENSP00000379065.3:p.Asp1239Glu
ENST00000519076.5:c.2940T>A ENSP00000428910.1:p.Asp980Glu
ENST00000520276.5:c.3690T>A ENSP00000428680.1:p.Asp1230Glu
NM_001282902.2:c.3690T>A NP_001269831.1:p.Asp1230Glu
NM_001282903.2:c.3696T>A NP_001269832.1:p.Asp1232Glu
NM_014112.4:c.3717T>A NP_054831.2:p.Asp1239Glu
XM_005251049.2:c.3678T>A XP_005251106.1:p.Asp1226Glu
XM_006716625.1:c.3717T>A XP_006716688.1:p.Asp1239Glu
XM_011517264.1:c.3717T>A XP_011515566.1:p.Asp1239Glu
XM_011517265.1:c.3717T>A XP_011515567.1:p.Asp1239Glu
XM_011517266.1:c.3717T>A XP_011515568.1:p.Asp1239Glu
XM_011517267.1:c.3696T>A XP_011515569.1:p.Asp1232Glu
XM_011517268.1:c.3678T>A XP_011515570.1:p.Asp1226Glu
NM_001330599.1:c.3678T>A NP_001317528.1:p.Asp1226Glu
XM_011517264.2:c.3717T>A XP_011515566.1:p.Asp1239Glu
XM_011517266.3:c.3717T>A XP_011515568.1:p.Asp1239Glu
XM_011517268.2:c.3678T>A XP_011515570.1:p.Asp1226Glu
NM_001282902.3:c.3690T>A NP_001269831.1:p.Asp1230Glu
NM_001282903.3:c.3696T>A NP_001269832.1:p.Asp1232Glu
NM_001330599.2:c.3678T>A NP_001317528.1:p.Asp1226Glu
NM_014112.5:c.3717T>A MANE Select NP_054831.2:p.Asp1239Glu