Canonical Allele Identifier: CA372062096

Gene: TRPS1

Linked Data

• ClinVar Variation Id: 2682155
• ClinVar RCV Id: RCV003479528
• MyVariant Identifiers: chr8:g.116426399T>A (hg19) ; chr8:g.115414171T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115414171T>A , CM000670.2:g.115414171T>A	GRCh38
NC_000008.10:g.116426399T>A , CM000670.1:g.116426399T>A	GRCh37
NC_000008.9:g.116495575T>A	NCBI36
NG_012383.3:g.259831A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395715.8:c.3737A>T MANE Select	ENSP00000379065.3:p.His1246Leu
ENST00000640765.1:c.3698A>T	ENSP00000492037.1:p.His1233Leu
ENST00000220888.9:c.3698A>T	ENSP00000220888.5:p.His1233Leu
ENST00000395715.7:c.3737A>T	ENSP00000379065.3:p.His1246Leu
ENST00000519076.5:c.2960A>T	ENSP00000428910.1:p.His987Leu
ENST00000520276.5:c.3710A>T	ENSP00000428680.1:p.His1237Leu
NM_001282902.2:c.3710A>T	NP_001269831.1:p.His1237Leu
NM_001282903.2:c.3716A>T	NP_001269832.1:p.His1239Leu
NM_014112.4:c.3737A>T	NP_054831.2:p.His1246Leu
XM_005251049.2:c.3698A>T	XP_005251106.1:p.His1233Leu
XM_006716625.1:c.3737A>T	XP_006716688.1:p.His1246Leu
XM_011517264.1:c.3737A>T	XP_011515566.1:p.His1246Leu
XM_011517265.1:c.3737A>T	XP_011515567.1:p.His1246Leu
XM_011517266.1:c.3737A>T	XP_011515568.1:p.His1246Leu
XM_011517267.1:c.3716A>T	XP_011515569.1:p.His1239Leu
XM_011517268.1:c.3698A>T	XP_011515570.1:p.His1233Leu
NM_001330599.1:c.3698A>T	NP_001317528.1:p.His1233Leu
XM_011517264.2:c.3737A>T	XP_011515566.1:p.His1246Leu
XM_011517266.3:c.3737A>T	XP_011515568.1:p.His1246Leu
XM_011517268.2:c.3698A>T	XP_011515570.1:p.His1233Leu
NM_001282902.3:c.3710A>T	NP_001269831.1:p.His1237Leu
NM_001282903.3:c.3716A>T	NP_001269832.1:p.His1239Leu
NM_001330599.2:c.3698A>T	NP_001317528.1:p.His1233Leu
NM_014112.5:c.3737A>T MANE Select	NP_054831.2:p.His1246Leu