Canonical Allele Identifier: CA372061821

Gene: TRPS1

Linked Data

• ClinVar Variation Id: 1468261
• ClinVar RCV Id: RCV001968896
• dbSNP Id: rs1335170890
• gnomAD v2: 8-116426281-T-G
• gnomAD v4: 8-115414053-T-G
• MyVariant Identifiers: chr8:g.116426281T>G (hg19) ; chr8:g.115414053T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115414053T>G , CM000670.2:g.115414053T>G	GRCh38
NC_000008.10:g.116426281T>G , CM000670.1:g.116426281T>G	GRCh37
NC_000008.9:g.116495457T>G	NCBI36
NG_012383.3:g.259949A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395715.8:c.3855A>C MANE Select	ENSP00000379065.3:p.Gln1285His
ENST00000640765.1:c.3816A>C	ENSP00000492037.1:p.Gln1272His
ENST00000220888.9:c.3816A>C	ENSP00000220888.5:p.Gln1272His
ENST00000395715.7:c.3855A>C	ENSP00000379065.3:p.Gln1285His
ENST00000519076.5:c.3078A>C	ENSP00000428910.1:p.Gln1026His
ENST00000520276.5:c.3828A>C	ENSP00000428680.1:p.Gln1276His
NM_001282902.2:c.3828A>C	NP_001269831.1:p.Gln1276His
NM_001282903.2:c.3834A>C	NP_001269832.1:p.Gln1278His
NM_014112.4:c.3855A>C	NP_054831.2:p.Gln1285His
XM_005251049.2:c.3816A>C	XP_005251106.1:p.Gln1272His
XM_006716625.1:c.3855A>C	XP_006716688.1:p.Gln1285His
XM_011517264.1:c.3855A>C	XP_011515566.1:p.Gln1285His
XM_011517265.1:c.3855A>C	XP_011515567.1:p.Gln1285His
XM_011517266.1:c.3855A>C	XP_011515568.1:p.Gln1285His
XM_011517267.1:c.3834A>C	XP_011515569.1:p.Gln1278His
XM_011517268.1:c.3816A>C	XP_011515570.1:p.Gln1272His
NM_001330599.1:c.3816A>C	NP_001317528.1:p.Gln1272His
XM_011517264.2:c.3855A>C	XP_011515566.1:p.Gln1285His
XM_011517266.3:c.3855A>C	XP_011515568.1:p.Gln1285His
XM_011517268.2:c.3816A>C	XP_011515570.1:p.Gln1272His
NM_001282902.3:c.3828A>C	NP_001269831.1:p.Gln1276His
NM_001282903.3:c.3834A>C	NP_001269832.1:p.Gln1278His
NM_001330599.2:c.3816A>C	NP_001317528.1:p.Gln1272His
NM_014112.5:c.3855A>C MANE Select	NP_054831.2:p.Gln1285His