Canonical Allele Identifier: CA117606

Gene: TRPS1

Linked Data

• ClinVar Variation Id: 5570
• ClinVar RCV Id: RCV000005912 ; RCV000420322 ; RCV001383894 ; RCV003242962
• dbSNP Id: rs121908431
• COSMIC: COSM1095254
• MyVariant Identifiers: chr8:g.116616326G>A (hg19) ; chr8:g.115604099G>A (hg38)
• PubMed: PMID:10615131 ; PMID:25792522 ; PMID:28426188

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115604099G>A , CM000670.2:g.115604099G>A	GRCh38
NC_000008.10:g.116616326G>A , CM000670.1:g.116616326G>A	GRCh37
NC_000008.9:g.116685501G>A	NCBI36
NG_012383.3:g.69903C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395715.8:c.1870C>T MANE Select	ENSP00000379065.3:p.Arg624Ter
ENST00000640765.1:c.1831C>T	ENSP00000492037.1:p.Arg611Ter
ENST00000220888.9:c.1831C>T	ENSP00000220888.5:p.Arg611Ter
ENST00000395715.7:c.1870C>T	ENSP00000379065.3:p.Arg624Ter
ENST00000517323.2:c.1292-49C>T	ENSP00000430803.2:n.1292-49C>T
ENST00000519076.5:c.1142-49C>T	ENSP00000428910.1:n.1142-49C>T
ENST00000519674.1:c.1831C>T	ENSP00000429174.1:p.Arg611Ter
ENST00000520276.5:c.1843C>T	ENSP00000428680.1:p.Arg615Ter
NM_001282902.2:c.1843C>T	NP_001269831.1:p.Arg615Ter
NM_001282903.2:c.1849C>T	NP_001269832.1:p.Arg617Ter
NM_014112.4:c.1870C>T	NP_054831.2:p.Arg624Ter
XM_005251049.2:c.1831C>T	XP_005251106.1:p.Arg611Ter
XM_006716625.1:c.1870C>T	XP_006716688.1:p.Arg624Ter
XM_011517264.1:c.1870C>T	XP_011515566.1:p.Arg624Ter
XM_011517265.1:c.1870C>T	XP_011515567.1:p.Arg624Ter
XM_011517266.1:c.1870C>T	XP_011515568.1:p.Arg624Ter
XM_011517267.1:c.1849C>T	XP_011515569.1:p.Arg617Ter
XM_011517268.1:c.1831C>T	XP_011515570.1:p.Arg611Ter
NM_001330599.1:c.1831C>T	NP_001317528.1:p.Arg611Ter
XM_011517264.2:c.1870C>T	XP_011515566.1:p.Arg624Ter
XM_011517266.3:c.1870C>T	XP_011515568.1:p.Arg624Ter
XM_011517268.2:c.1831C>T	XP_011515570.1:p.Arg611Ter
NM_001282902.3:c.1843C>T	NP_001269831.1:p.Arg615Ter
NM_001282903.3:c.1849C>T	NP_001269832.1:p.Arg617Ter
NM_001330599.2:c.1831C>T	NP_001317528.1:p.Arg611Ter
NM_014112.5:c.1870C>T MANE Select	NP_054831.2:p.Arg624Ter