Canonical Allele Identifier: CA372064676

Gene: TRPS1

Linked Data

• dbSNP Id: rs1269185456
• gnomAD v2: 8-116599275-C-T
• MyVariant Identifiers: chr8:g.116599275C>T (hg19) ; chr8:g.115587048C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115587048C>T , CM000670.2:g.115587048C>T	GRCh38
NC_000008.10:g.116599275C>T , CM000670.1:g.116599275C>T	GRCh37
NC_000008.9:g.116668450C>T	NCBI36
NG_012383.3:g.86954G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395715.8:c.2653G>A MANE Select	ENSP00000379065.3:p.Ala885Thr
ENST00000640765.1:c.2614G>A	ENSP00000492037.1:p.Ala872Thr
ENST00000220888.9:c.2614G>A	ENSP00000220888.5:p.Ala872Thr
ENST00000395715.7:c.2653G>A	ENSP00000379065.3:p.Ala885Thr
ENST00000517323.2:c.2026G>A	ENSP00000430803.2:p.Ala676Thr
ENST00000519076.5:c.1876G>A	ENSP00000428910.1:p.Ala626Thr
ENST00000519674.1:c.2614G>A	ENSP00000429174.1:p.Ala872Thr
ENST00000520276.5:c.2626G>A	ENSP00000428680.1:p.Ala876Thr
NM_001282902.2:c.2626G>A	NP_001269831.1:p.Ala876Thr
NM_001282903.2:c.2632G>A	NP_001269832.1:p.Ala878Thr
NM_014112.4:c.2653G>A	NP_054831.2:p.Ala885Thr
XM_005251049.2:c.2614G>A	XP_005251106.1:p.Ala872Thr
XM_006716625.1:c.2653G>A	XP_006716688.1:p.Ala885Thr
XM_011517264.1:c.2653G>A	XP_011515566.1:p.Ala885Thr
XM_011517265.1:c.2653G>A	XP_011515567.1:p.Ala885Thr
XM_011517266.1:c.2653G>A	XP_011515568.1:p.Ala885Thr
XM_011517267.1:c.2632G>A	XP_011515569.1:p.Ala878Thr
XM_011517268.1:c.2614G>A	XP_011515570.1:p.Ala872Thr
NM_001330599.1:c.2614G>A	NP_001317528.1:p.Ala872Thr
XM_011517264.2:c.2653G>A	XP_011515566.1:p.Ala885Thr
XM_011517266.3:c.2653G>A	XP_011515568.1:p.Ala885Thr
XM_011517268.2:c.2614G>A	XP_011515570.1:p.Ala872Thr
NM_001282902.3:c.2626G>A	NP_001269831.1:p.Ala876Thr
NM_001282903.3:c.2632G>A	NP_001269832.1:p.Ala878Thr
NM_001330599.2:c.2614G>A	NP_001317528.1:p.Ala872Thr
NM_014112.5:c.2653G>A MANE Select	NP_054831.2:p.Ala885Thr