Canonical Allele Identifier: CA117616
Gene: TRPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5578
ClinVar RCV Id: RCV000005920 RCV000505309 RCV001091702 RCV001212523 RCV001849257
dbSNP Id: rs121908436
COSMIC: COSM3164487 COSM3164488
MyVariant Identifiers: chr8:g.116430586G>A (hg19) chr8:g.115418358G>A (hg38)
PubMed: PMID:11950061 PMID:25792522 PMID:28426188
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.115418358G>A , CM000670.2:g.115418358G>A GRCh38
NC_000008.10:g.116430586G>A , CM000670.1:g.116430586G>A GRCh37
NC_000008.9:g.116499762G>A NCBI36
NG_012383.3:g.255644C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395715.8:c.2795C>T MANE Select ENSP00000379065.3:p.Ala932Val
ENST00000640765.1:c.2756C>T ENSP00000492037.1:p.Ala919Val
ENST00000220888.9:c.2756C>T ENSP00000220888.5:p.Ala919Val
ENST00000395715.7:c.2795C>T ENSP00000379065.3:p.Ala932Val
ENST00000518018.1:c.129C>T
ENST00000519076.5:c.2018C>T ENSP00000428910.1:p.Ala673Val
ENST00000520276.5:c.2768C>T ENSP00000428680.1:p.Ala923Val
NM_001282902.2:c.2768C>T NP_001269831.1:p.Ala923Val
NM_001282903.2:c.2774C>T NP_001269832.1:p.Ala925Val
NM_014112.4:c.2795C>T NP_054831.2:p.Ala932Val
XM_005251049.2:c.2756C>T XP_005251106.1:p.Ala919Val
XM_006716625.1:c.2795C>T XP_006716688.1:p.Ala932Val
XM_011517264.1:c.2795C>T XP_011515566.1:p.Ala932Val
XM_011517265.1:c.2795C>T XP_011515567.1:p.Ala932Val
XM_011517266.1:c.2795C>T XP_011515568.1:p.Ala932Val
XM_011517267.1:c.2774C>T XP_011515569.1:p.Ala925Val
XM_011517268.1:c.2756C>T XP_011515570.1:p.Ala919Val
NM_001330599.1:c.2756C>T NP_001317528.1:p.Ala919Val
XM_011517264.2:c.2795C>T XP_011515566.1:p.Ala932Val
XM_011517266.3:c.2795C>T XP_011515568.1:p.Ala932Val
XM_011517268.2:c.2756C>T XP_011515570.1:p.Ala919Val
NM_001282902.3:c.2768C>T NP_001269831.1:p.Ala923Val
NM_001282903.3:c.2774C>T NP_001269832.1:p.Ala925Val
NM_001330599.2:c.2756C>T NP_001317528.1:p.Ala919Val
NM_014112.5:c.2795C>T MANE Select NP_054831.2:p.Ala932Val
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