Canonical Allele Identifier: CA117614

Gene: TRPS1

Linked Data

• ClinVar Variation Id: 5577
• ClinVar RCV Id: RCV000005919 ; RCV000505300 ; RCV000706380 ; RCV001781190
• dbSNP Id: rs121908435
• MyVariant Identifiers: chr8:g.116430619C>T (hg19) ; chr8:g.115418391C>T (hg38)
• PubMed: PMID:11807863 ; PMID:25792522 ; PMID:28426188

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115418391C>T , CM000670.2:g.115418391C>T	GRCh38
NC_000008.10:g.116430619C>T , CM000670.1:g.116430619C>T	GRCh37
NC_000008.9:g.116499795C>T	NCBI36
NG_012383.3:g.255611G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395715.8:c.2762G>A MANE Select	ENSP00000379065.3:p.Arg921Gln
ENST00000640765.1:c.2723G>A	ENSP00000492037.1:p.Arg908Gln
ENST00000220888.9:c.2723G>A	ENSP00000220888.5:p.Arg908Gln
ENST00000395715.7:c.2762G>A	ENSP00000379065.3:p.Arg921Gln
ENST00000518018.1:c.96G>A
ENST00000519076.5:c.1985G>A	ENSP00000428910.1:p.Arg662Gln
ENST00000520276.5:c.2735G>A	ENSP00000428680.1:p.Arg912Gln
NM_001282902.2:c.2735G>A	NP_001269831.1:p.Arg912Gln
NM_001282903.2:c.2741G>A	NP_001269832.1:p.Arg914Gln
NM_014112.4:c.2762G>A	NP_054831.2:p.Arg921Gln
XM_005251049.2:c.2723G>A	XP_005251106.1:p.Arg908Gln
XM_006716625.1:c.2762G>A	XP_006716688.1:p.Arg921Gln
XM_011517264.1:c.2762G>A	XP_011515566.1:p.Arg921Gln
XM_011517265.1:c.2762G>A	XP_011515567.1:p.Arg921Gln
XM_011517266.1:c.2762G>A	XP_011515568.1:p.Arg921Gln
XM_011517267.1:c.2741G>A	XP_011515569.1:p.Arg914Gln
XM_011517268.1:c.2723G>A	XP_011515570.1:p.Arg908Gln
NM_001330599.1:c.2723G>A	NP_001317528.1:p.Arg908Gln
XM_011517264.2:c.2762G>A	XP_011515566.1:p.Arg921Gln
XM_011517266.3:c.2762G>A	XP_011515568.1:p.Arg921Gln
XM_011517268.2:c.2723G>A	XP_011515570.1:p.Arg908Gln
NM_001282902.3:c.2735G>A	NP_001269831.1:p.Arg912Gln
NM_001282903.3:c.2741G>A	NP_001269832.1:p.Arg914Gln
NM_001330599.2:c.2723G>A	NP_001317528.1:p.Arg908Gln
NM_014112.5:c.2762G>A MANE Select	NP_054831.2:p.Arg921Gln