Canonical Allele Identifier: CA16043432
Gene: TRPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373946
ClinVar RCV Id: RCV000414836
dbSNP Id: rs1057518791
MyVariant Identifiers: chr8:g.116616966C>T (hg19) chr8:g.115604739C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.115604739C>T , CM000670.2:g.115604739C>T GRCh38
NC_000008.10:g.116616966C>T , CM000670.1:g.116616966C>T GRCh37
NC_000008.9:g.116686141C>T NCBI36
NG_012383.3:g.69263G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000395715.8:c.1230G>A MANE Select ENSP00000379065.3:p.Trp410Ter
ENST00000640765.1:c.1191G>A ENSP00000492037.1:p.Trp397Ter
ENST00000220888.9:c.1191G>A ENSP00000220888.5:p.Trp397Ter
ENST00000395715.7:c.1230G>A ENSP00000379065.3:p.Trp410Ter
ENST00000517323.2:c.1203G>A ENSP00000430803.2:p.Trp401Ter
ENST00000519076.5:c.1053G>A ENSP00000428910.1:p.Trp351Ter
ENST00000519674.1:c.1191G>A ENSP00000429174.1:p.Trp397Ter
ENST00000520276.5:c.1203G>A ENSP00000428680.1:p.Trp401Ter
NM_001282902.2:c.1203G>A NP_001269831.1:p.Trp401Ter
NM_001282903.2:c.1209G>A NP_001269832.1:p.Trp403Ter
NM_014112.4:c.1230G>A NP_054831.2:p.Trp410Ter
XM_005251049.2:c.1191G>A XP_005251106.1:p.Trp397Ter
XM_006716625.1:c.1230G>A XP_006716688.1:p.Trp410Ter
XM_011517264.1:c.1230G>A XP_011515566.1:p.Trp410Ter
XM_011517265.1:c.1230G>A XP_011515567.1:p.Trp410Ter
XM_011517266.1:c.1230G>A XP_011515568.1:p.Trp410Ter
XM_011517267.1:c.1209G>A XP_011515569.1:p.Trp403Ter
XM_011517268.1:c.1191G>A XP_011515570.1:p.Trp397Ter
NM_001330599.1:c.1191G>A NP_001317528.1:p.Trp397Ter
XM_011517264.2:c.1230G>A XP_011515566.1:p.Trp410Ter
XM_011517266.3:c.1230G>A XP_011515568.1:p.Trp410Ter
XM_011517268.2:c.1191G>A XP_011515570.1:p.Trp397Ter
NM_001282902.3:c.1203G>A NP_001269831.1:p.Trp401Ter
NM_001282903.3:c.1209G>A NP_001269832.1:p.Trp403Ter
NM_001330599.2:c.1191G>A NP_001317528.1:p.Trp397Ter
NM_014112.5:c.1230G>A MANE Select NP_054831.2:p.Trp410Ter
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