Canonical Allele Identifier: CA372067445

Gene: TRPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115604552C>G , CM000670.2:g.115604552C>G	GRCh38
NC_000008.10:g.116616779C>G , CM000670.1:g.116616779C>G	GRCh37
NC_000008.9:g.116685954C>G	NCBI36
NG_012383.3:g.69450G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014112.5:c.1417G>C MANE Select	NP_054831.2:p.Gly473Arg
ENST00000395715.8:c.1417G>C MANE Select	ENSP00000379065.3:p.Gly473Arg
NM_001282902.2:c.1390G>C	NP_001269831.1:p.Gly464Arg
NM_001282902.3:c.1390G>C	NP_001269831.1:p.Gly464Arg
NM_001282903.2:c.1396G>C	NP_001269832.1:p.Gly466Arg
NM_001282903.3:c.1396G>C	NP_001269832.1:p.Gly466Arg
NM_001330599.1:c.1378G>C	NP_001317528.1:p.Gly460Arg
NM_001330599.2:c.1378G>C	NP_001317528.1:p.Gly460Arg
NM_014112.4:c.1417G>C	NP_054831.2:p.Gly473Arg
ENST00000220888.9:c.1378G>C	ENSP00000220888.5:p.Gly460Arg
ENST00000395715.7:c.1417G>C	ENSP00000379065.3:p.Gly473Arg
ENST00000517323.2:c.1291+99G>C	ENSP00000430803.2:n.1291+99G>C
ENST00000519076.5:c.1141+99G>C	ENSP00000428910.1:n.1141+99G>C
ENST00000519674.1:c.1378G>C	ENSP00000429174.1:p.Gly460Arg
ENST00000520276.5:c.1390G>C	ENSP00000428680.1:p.Gly464Arg
ENST00000640765.1:c.1378G>C	ENSP00000492037.1:p.Gly460Arg
XM_005251049.2:c.1378G>C	XP_005251106.1:p.Gly460Arg
XM_006716625.1:c.1417G>C	XP_006716688.1:p.Gly473Arg
XM_011517264.1:c.1417G>C	XP_011515566.1:p.Gly473Arg
XM_011517264.2:c.1417G>C	XP_011515566.1:p.Gly473Arg
XM_011517265.1:c.1417G>C	XP_011515567.1:p.Gly473Arg
XM_011517266.1:c.1417G>C	XP_011515568.1:p.Gly473Arg
XM_011517266.3:c.1417G>C	XP_011515568.1:p.Gly473Arg
XM_011517267.1:c.1396G>C	XP_011515569.1:p.Gly466Arg
XM_011517268.1:c.1378G>C	XP_011515570.1:p.Gly460Arg
XM_011517268.2:c.1378G>C	XP_011515570.1:p.Gly460Arg