Canonical Allele Identifier: CA4851616

Gene: TRPS1

Linked Data

• ClinVar Variation Id: 774124
• ClinVar RCV Id: RCV000954029 ; RCV002548259
• dbSNP Id: rs369004633
• ExAC: 8:116599283 T / C
• gnomAD v2: 8-116599283-T-C
• gnomAD v3: 8-115587056-T-C
• gnomAD v4: 8-115587056-T-C
• MyVariant Identifiers: chr8:g.116599283T>C (hg19) ; chr8:g.115587056T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115587056T>C , CM000670.2:g.115587056T>C	GRCh38
NC_000008.10:g.116599283T>C , CM000670.1:g.116599283T>C	GRCh37
NC_000008.9:g.116668458T>C	NCBI36
NG_012383.3:g.86946A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000395715.8:c.2645A>G MANE Select	ENSP00000379065.3:p.Gln882Arg
ENST00000640765.1:c.2606A>G	ENSP00000492037.1:p.Gln869Arg
ENST00000220888.9:c.2606A>G	ENSP00000220888.5:p.Gln869Arg
ENST00000395715.7:c.2645A>G	ENSP00000379065.3:p.Gln882Arg
ENST00000517323.2:c.2018A>G	ENSP00000430803.2:p.Gln673Arg
ENST00000519076.5:c.1868A>G	ENSP00000428910.1:p.Gln623Arg
ENST00000519674.1:c.2606A>G	ENSP00000429174.1:p.Gln869Arg
ENST00000520276.5:c.2618A>G	ENSP00000428680.1:p.Gln873Arg
NM_001282902.2:c.2618A>G	NP_001269831.1:p.Gln873Arg
NM_001282903.2:c.2624A>G	NP_001269832.1:p.Gln875Arg
NM_014112.4:c.2645A>G	NP_054831.2:p.Gln882Arg
XM_005251049.2:c.2606A>G	XP_005251106.1:p.Gln869Arg
XM_006716625.1:c.2645A>G	XP_006716688.1:p.Gln882Arg
XM_011517264.1:c.2645A>G	XP_011515566.1:p.Gln882Arg
XM_011517265.1:c.2645A>G	XP_011515567.1:p.Gln882Arg
XM_011517266.1:c.2645A>G	XP_011515568.1:p.Gln882Arg
XM_011517267.1:c.2624A>G	XP_011515569.1:p.Gln875Arg
XM_011517268.1:c.2606A>G	XP_011515570.1:p.Gln869Arg
NM_001330599.1:c.2606A>G	NP_001317528.1:p.Gln869Arg
XM_011517264.2:c.2645A>G	XP_011515566.1:p.Gln882Arg
XM_011517266.3:c.2645A>G	XP_011515568.1:p.Gln882Arg
XM_011517268.2:c.2606A>G	XP_011515570.1:p.Gln869Arg
NM_001282902.3:c.2618A>G	NP_001269831.1:p.Gln873Arg
NM_001282903.3:c.2624A>G	NP_001269832.1:p.Gln875Arg
NM_001330599.2:c.2606A>G	NP_001317528.1:p.Gln869Arg
NM_014112.5:c.2645A>G MANE Select	NP_054831.2:p.Gln882Arg