Canonical Allele Identifier: CA372065671

Gene: TRPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115587513G>A , CM000670.2:g.115587513G>A	GRCh38
NC_000008.10:g.116599740G>A , CM000670.1:g.116599740G>A	GRCh37
NC_000008.9:g.116668915G>A	NCBI36
NG_012383.3:g.86489C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014112.5:c.2188C>T MANE Select	NP_054831.2:p.Gln730Ter
ENST00000395715.8:c.2188C>T MANE Select	ENSP00000379065.3:p.Gln730Ter
NM_001282902.2:c.2161C>T	NP_001269831.1:p.Gln721Ter
NM_001282902.3:c.2161C>T	NP_001269831.1:p.Gln721Ter
NM_001282903.2:c.2167C>T	NP_001269832.1:p.Gln723Ter
NM_001282903.3:c.2167C>T	NP_001269832.1:p.Gln723Ter
NM_001330599.1:c.2149C>T	NP_001317528.1:p.Gln717Ter
NM_001330599.2:c.2149C>T	NP_001317528.1:p.Gln717Ter
NM_014112.4:c.2188C>T	NP_054831.2:p.Gln730Ter
ENST00000220888.9:c.2149C>T	ENSP00000220888.5:p.Gln717Ter
ENST00000395715.7:c.2188C>T	ENSP00000379065.3:p.Gln730Ter
ENST00000517323.2:c.1561C>T	ENSP00000430803.2:p.Gln521Ter
ENST00000519076.5:c.1411C>T	ENSP00000428910.1:p.Gln471Ter
ENST00000519674.1:c.2149C>T	ENSP00000429174.1:p.Gln717Ter
ENST00000520276.5:c.2161C>T	ENSP00000428680.1:p.Gln721Ter
ENST00000640765.1:c.2149C>T	ENSP00000492037.1:p.Gln717Ter
XM_005251049.2:c.2149C>T	XP_005251106.1:p.Gln717Ter
XM_006716625.1:c.2188C>T	XP_006716688.1:p.Gln730Ter
XM_011517264.1:c.2188C>T	XP_011515566.1:p.Gln730Ter
XM_011517264.2:c.2188C>T	XP_011515566.1:p.Gln730Ter
XM_011517265.1:c.2188C>T	XP_011515567.1:p.Gln730Ter
XM_011517266.1:c.2188C>T	XP_011515568.1:p.Gln730Ter
XM_011517266.3:c.2188C>T	XP_011515568.1:p.Gln730Ter
XM_011517267.1:c.2167C>T	XP_011515569.1:p.Gln723Ter
XM_011517268.1:c.2149C>T	XP_011515570.1:p.Gln717Ter
XM_011517268.2:c.2149C>T	XP_011515570.1:p.Gln717Ter