Canonical Allele Identifier: CA117608
Gene: TRPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5573
ClinVar RCV Id: RCV000005915 RCV000760409
dbSNP Id: rs121908432
COSMIC: COSM4736684 COSM4736685
MyVariant Identifiers: chr8:g.116599371G>A (hg19) chr8:g.115587144G>A (hg38)
PubMed: PMID:10615131 PMID:25792522 PMID:28426188
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.115587144G>A , CM000670.2:g.115587144G>A GRCh38
NC_000008.10:g.116599371G>A , CM000670.1:g.116599371G>A GRCh37
NC_000008.9:g.116668546G>A NCBI36
NG_012383.3:g.86858C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395715.8:c.2557C>T MANE Select ENSP00000379065.3:p.Arg853Ter
ENST00000640765.1:c.2518C>T ENSP00000492037.1:p.Arg840Ter
ENST00000220888.9:c.2518C>T ENSP00000220888.5:p.Arg840Ter
ENST00000395715.7:c.2557C>T ENSP00000379065.3:p.Arg853Ter
ENST00000517323.2:c.1930C>T ENSP00000430803.2:p.Arg644Ter
ENST00000519076.5:c.1780C>T ENSP00000428910.1:p.Arg594Ter
ENST00000519674.1:c.2518C>T ENSP00000429174.1:p.Arg840Ter
ENST00000520276.5:c.2530C>T ENSP00000428680.1:p.Arg844Ter
NM_001282902.2:c.2530C>T NP_001269831.1:p.Arg844Ter
NM_001282903.2:c.2536C>T NP_001269832.1:p.Arg846Ter
NM_014112.4:c.2557C>T NP_054831.2:p.Arg853Ter
XM_005251049.2:c.2518C>T XP_005251106.1:p.Arg840Ter
XM_006716625.1:c.2557C>T XP_006716688.1:p.Arg853Ter
XM_011517264.1:c.2557C>T XP_011515566.1:p.Arg853Ter
XM_011517265.1:c.2557C>T XP_011515567.1:p.Arg853Ter
XM_011517266.1:c.2557C>T XP_011515568.1:p.Arg853Ter
XM_011517267.1:c.2536C>T XP_011515569.1:p.Arg846Ter
XM_011517268.1:c.2518C>T XP_011515570.1:p.Arg840Ter
NM_001330599.1:c.2518C>T NP_001317528.1:p.Arg840Ter
XM_011517264.2:c.2557C>T XP_011515566.1:p.Arg853Ter
XM_011517266.3:c.2557C>T XP_011515568.1:p.Arg853Ter
XM_011517268.2:c.2518C>T XP_011515570.1:p.Arg840Ter
NM_001282902.3:c.2530C>T NP_001269831.1:p.Arg844Ter
NM_001282903.3:c.2536C>T NP_001269832.1:p.Arg846Ter
NM_001330599.2:c.2518C>T NP_001317528.1:p.Arg840Ter
NM_014112.5:c.2557C>T MANE Select NP_054831.2:p.Arg853Ter
Search 100 bp 5'
Search 100 bp 3'