Canonical Allele Identifier: CA372062196

Gene: TRPS1

Linked Data

• gnomAD v4: 8-115414214-G-A
• MyVariant Identifiers: chr8:g.116426442G>A (hg19) ; chr8:g.115414214G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115414214G>A , CM000670.2:g.115414214G>A	GRCh38
NC_000008.10:g.116426442G>A , CM000670.1:g.116426442G>A	GRCh37
NC_000008.9:g.116495618G>A	NCBI36
NG_012383.3:g.259788C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395715.8:c.3694C>T MANE Select	ENSP00000379065.3:p.His1232Tyr
ENST00000640765.1:c.3655C>T	ENSP00000492037.1:p.His1219Tyr
ENST00000220888.9:c.3655C>T	ENSP00000220888.5:p.His1219Tyr
ENST00000395715.7:c.3694C>T	ENSP00000379065.3:p.His1232Tyr
ENST00000519076.5:c.2917C>T	ENSP00000428910.1:p.His973Tyr
ENST00000520276.5:c.3667C>T	ENSP00000428680.1:p.His1223Tyr
NM_001282902.2:c.3667C>T	NP_001269831.1:p.His1223Tyr
NM_001282903.2:c.3673C>T	NP_001269832.1:p.His1225Tyr
NM_014112.4:c.3694C>T	NP_054831.2:p.His1232Tyr
XM_005251049.2:c.3655C>T	XP_005251106.1:p.His1219Tyr
XM_006716625.1:c.3694C>T	XP_006716688.1:p.His1232Tyr
XM_011517264.1:c.3694C>T	XP_011515566.1:p.His1232Tyr
XM_011517265.1:c.3694C>T	XP_011515567.1:p.His1232Tyr
XM_011517266.1:c.3694C>T	XP_011515568.1:p.His1232Tyr
XM_011517267.1:c.3673C>T	XP_011515569.1:p.His1225Tyr
XM_011517268.1:c.3655C>T	XP_011515570.1:p.His1219Tyr
NM_001330599.1:c.3655C>T	NP_001317528.1:p.His1219Tyr
XM_011517264.2:c.3694C>T	XP_011515566.1:p.His1232Tyr
XM_011517266.3:c.3694C>T	XP_011515568.1:p.His1232Tyr
XM_011517268.2:c.3655C>T	XP_011515570.1:p.His1219Tyr
NM_001282902.3:c.3667C>T	NP_001269831.1:p.His1223Tyr
NM_001282903.3:c.3673C>T	NP_001269832.1:p.His1225Tyr
NM_001330599.2:c.3655C>T	NP_001317528.1:p.His1219Tyr
NM_014112.5:c.3694C>T MANE Select	NP_054831.2:p.His1232Tyr