Canonical Allele Identifier: CA4851614

Gene: TRPS1

Linked Data

• ClinVar Variation Id: 1951730
• ClinVar RCV Id: RCV002695104 ; RCV002695105
• dbSNP Id: rs142472404
• ExAC: 8:116599271 G / A
• gnomAD v2: 8-116599271-G-A
• gnomAD v3: 8-115587044-G-A
• gnomAD v4: 8-115587044-G-A
• MyVariant Identifiers: chr8:g.116599271G>A (hg19) ; chr8:g.115587044G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115587044G>A , CM000670.2:g.115587044G>A	GRCh38
NC_000008.10:g.116599271G>A , CM000670.1:g.116599271G>A	GRCh37
NC_000008.9:g.116668446G>A	NCBI36
NG_012383.3:g.86958C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395715.8:c.2657C>T MANE Select	ENSP00000379065.3:p.Ser886Leu
ENST00000640765.1:c.2618C>T	ENSP00000492037.1:p.Ser873Leu
ENST00000220888.9:c.2618C>T	ENSP00000220888.5:p.Ser873Leu
ENST00000395715.7:c.2657C>T	ENSP00000379065.3:p.Ser886Leu
ENST00000517323.2:c.2030C>T	ENSP00000430803.2:p.Ser677Leu
ENST00000519076.5:c.1880C>T	ENSP00000428910.1:p.Ser627Leu
ENST00000519674.1:c.2618C>T	ENSP00000429174.1:p.Ser873Leu
ENST00000520276.5:c.2630C>T	ENSP00000428680.1:p.Ser877Leu
NM_001282902.2:c.2630C>T	NP_001269831.1:p.Ser877Leu
NM_001282903.2:c.2636C>T	NP_001269832.1:p.Ser879Leu
NM_014112.4:c.2657C>T	NP_054831.2:p.Ser886Leu
XM_005251049.2:c.2618C>T	XP_005251106.1:p.Ser873Leu
XM_006716625.1:c.2657C>T	XP_006716688.1:p.Ser886Leu
XM_011517264.1:c.2657C>T	XP_011515566.1:p.Ser886Leu
XM_011517265.1:c.2657C>T	XP_011515567.1:p.Ser886Leu
XM_011517266.1:c.2657C>T	XP_011515568.1:p.Ser886Leu
XM_011517267.1:c.2636C>T	XP_011515569.1:p.Ser879Leu
XM_011517268.1:c.2618C>T	XP_011515570.1:p.Ser873Leu
NM_001330599.1:c.2618C>T	NP_001317528.1:p.Ser873Leu
XM_011517264.2:c.2657C>T	XP_011515566.1:p.Ser886Leu
XM_011517266.3:c.2657C>T	XP_011515568.1:p.Ser886Leu
XM_011517268.2:c.2618C>T	XP_011515570.1:p.Ser873Leu
NM_001282902.3:c.2630C>T	NP_001269831.1:p.Ser877Leu
NM_001282903.3:c.2636C>T	NP_001269832.1:p.Ser879Leu
NM_001330599.2:c.2618C>T	NP_001317528.1:p.Ser873Leu
NM_014112.5:c.2657C>T MANE Select	NP_054831.2:p.Ser886Leu