Canonical Allele Identifier: CA372068453

Gene: TRPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115605003C>A , CM000670.2:g.115605003C>A	GRCh38
NC_000008.10:g.116617230C>A , CM000670.1:g.116617230C>A	GRCh37
NC_000008.9:g.116686405C>A	NCBI36
NG_012383.3:g.68999G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014112.5:c.967-1G>T MANE Select	NP_054831.2:n.967-1G>T
ENST00000395715.8:c.967-1G>T MANE Select	ENSP00000379065.3:n.967-1G>T
NM_001282902.2:c.940-1G>T	NP_001269831.1:n.940-1G>T
NM_001282902.3:c.940-1G>T	NP_001269831.1:n.940-1G>T
NM_001282903.2:c.946-1G>T	NP_001269832.1:n.946-1G>T
NM_001282903.3:c.946-1G>T	NP_001269832.1:n.946-1G>T
NM_001330599.1:c.928-1G>T	NP_001317528.1:n.928-1G>T
NM_001330599.2:c.928-1G>T	NP_001317528.1:n.928-1G>T
NM_014112.4:c.967-1G>T	NP_054831.2:n.967-1G>T
ENST00000220888.9:c.928-1G>T	ENSP00000220888.5:n.928-1G>T
ENST00000395715.7:c.967-1G>T	ENSP00000379065.3:n.967-1G>T
ENST00000517323.2:c.940-1G>T	ENSP00000430803.2:n.940-1G>T
ENST00000519076.5:c.790-1G>T	ENSP00000428910.1:n.790-1G>T
ENST00000519674.1:c.928-1G>T	ENSP00000429174.1:n.928-1G>T
ENST00000520276.5:c.940-1G>T	ENSP00000428680.1:n.940-1G>T
ENST00000640765.1:c.928-1G>T	ENSP00000492037.1:n.928-1G>T
XM_005251049.2:c.928-1G>T	XP_005251106.1:n.928-1G>T
XM_006716625.1:c.967-1G>T	XP_006716688.1:n.967-1G>T
XM_011517264.1:c.967-1G>T	XP_011515566.1:n.967-1G>T
XM_011517264.2:c.967-1G>T	XP_011515566.1:n.967-1G>T
XM_011517265.1:c.967-1G>T	XP_011515567.1:n.967-1G>T
XM_011517266.1:c.967-1G>T	XP_011515568.1:n.967-1G>T
XM_011517266.3:c.967-1G>T	XP_011515568.1:n.967-1G>T
XM_011517267.1:c.946-1G>T	XP_011515569.1:n.946-1G>T
XM_011517268.1:c.928-1G>T	XP_011515570.1:n.928-1G>T
XM_011517268.2:c.928-1G>T	XP_011515570.1:n.928-1G>T