Canonical Allele Identifier: CA372062011

Gene: TRPS1

Linked Data

• dbSNP Id: rs1319979538
• gnomAD v2: 8-116426364-A-G
• gnomAD v4: 8-115414136-A-G
• MyVariant Identifiers: chr8:g.116426364A>G (hg19) ; chr8:g.115414136A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115414136A>G , CM000670.2:g.115414136A>G	GRCh38
NC_000008.10:g.116426364A>G , CM000670.1:g.116426364A>G	GRCh37
NC_000008.9:g.116495540A>G	NCBI36
NG_012383.3:g.259866T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395715.8:c.3772T>C MANE Select	ENSP00000379065.3:p.Cys1258Arg
ENST00000640765.1:c.3733T>C	ENSP00000492037.1:p.Cys1245Arg
ENST00000220888.9:c.3733T>C	ENSP00000220888.5:p.Cys1245Arg
ENST00000395715.7:c.3772T>C	ENSP00000379065.3:p.Cys1258Arg
ENST00000519076.5:c.2995T>C	ENSP00000428910.1:p.Cys999Arg
ENST00000520276.5:c.3745T>C	ENSP00000428680.1:p.Cys1249Arg
NM_001282902.2:c.3745T>C	NP_001269831.1:p.Cys1249Arg
NM_001282903.2:c.3751T>C	NP_001269832.1:p.Cys1251Arg
NM_014112.4:c.3772T>C	NP_054831.2:p.Cys1258Arg
XM_005251049.2:c.3733T>C	XP_005251106.1:p.Cys1245Arg
XM_006716625.1:c.3772T>C	XP_006716688.1:p.Cys1258Arg
XM_011517264.1:c.3772T>C	XP_011515566.1:p.Cys1258Arg
XM_011517265.1:c.3772T>C	XP_011515567.1:p.Cys1258Arg
XM_011517266.1:c.3772T>C	XP_011515568.1:p.Cys1258Arg
XM_011517267.1:c.3751T>C	XP_011515569.1:p.Cys1251Arg
XM_011517268.1:c.3733T>C	XP_011515570.1:p.Cys1245Arg
NM_001330599.1:c.3733T>C	NP_001317528.1:p.Cys1245Arg
XM_011517264.2:c.3772T>C	XP_011515566.1:p.Cys1258Arg
XM_011517266.3:c.3772T>C	XP_011515568.1:p.Cys1258Arg
XM_011517268.2:c.3733T>C	XP_011515570.1:p.Cys1245Arg
NM_001282902.3:c.3745T>C	NP_001269831.1:p.Cys1249Arg
NM_001282903.3:c.3751T>C	NP_001269832.1:p.Cys1251Arg
NM_001330599.2:c.3733T>C	NP_001317528.1:p.Cys1245Arg
NM_014112.5:c.3772T>C MANE Select	NP_054831.2:p.Cys1258Arg