Canonical Allele Identifier: CA372064369

Gene: TRPS1

Linked Data

• ClinVar Variation Id: 438460
• ClinVar RCV Id: RCV000505319
• dbSNP Id: rs1554617581
• MyVariant Identifiers: chr8:g.116430650T>A (hg19) ; chr8:g.115418422T>A (hg38)
• PubMed: PMID:25792522 ; PMID:28426188

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115418422T>A , CM000670.2:g.115418422T>A	GRCh38
NC_000008.10:g.116430650T>A , CM000670.1:g.116430650T>A	GRCh37
NC_000008.9:g.116499826T>A	NCBI36
NG_012383.3:g.255580A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395715.8:c.2731A>T MANE Select	ENSP00000379065.3:p.Asn911Tyr
ENST00000640765.1:c.2692A>T	ENSP00000492037.1:p.Asn898Tyr
ENST00000220888.9:c.2692A>T	ENSP00000220888.5:p.Asn898Tyr
ENST00000395715.7:c.2731A>T	ENSP00000379065.3:p.Asn911Tyr
ENST00000518018.1:c.65A>T
ENST00000519076.5:c.1954A>T	ENSP00000428910.1:p.Asn652Tyr
ENST00000520276.5:c.2704A>T	ENSP00000428680.1:p.Asn902Tyr
NM_001282902.2:c.2704A>T	NP_001269831.1:p.Asn902Tyr
NM_001282903.2:c.2710A>T	NP_001269832.1:p.Asn904Tyr
NM_014112.4:c.2731A>T	NP_054831.2:p.Asn911Tyr
XM_005251049.2:c.2692A>T	XP_005251106.1:p.Asn898Tyr
XM_006716625.1:c.2731A>T	XP_006716688.1:p.Asn911Tyr
XM_011517264.1:c.2731A>T	XP_011515566.1:p.Asn911Tyr
XM_011517265.1:c.2731A>T	XP_011515567.1:p.Asn911Tyr
XM_011517266.1:c.2731A>T	XP_011515568.1:p.Asn911Tyr
XM_011517267.1:c.2710A>T	XP_011515569.1:p.Asn904Tyr
XM_011517268.1:c.2692A>T	XP_011515570.1:p.Asn898Tyr
NM_001330599.1:c.2692A>T	NP_001317528.1:p.Asn898Tyr
XM_011517264.2:c.2731A>T	XP_011515566.1:p.Asn911Tyr
XM_011517266.3:c.2731A>T	XP_011515568.1:p.Asn911Tyr
XM_011517268.2:c.2692A>T	XP_011515570.1:p.Asn898Tyr
NM_001282902.3:c.2704A>T	NP_001269831.1:p.Asn902Tyr
NM_001282903.3:c.2710A>T	NP_001269832.1:p.Asn904Tyr
NM_001330599.2:c.2692A>T	NP_001317528.1:p.Asn898Tyr
NM_014112.5:c.2731A>T MANE Select	NP_054831.2:p.Asn911Tyr