Canonical Allele Identifier: CA2688302374

Gene: TRPS1

Linked Data

• gnomAD v4: 8-115413773-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115413773G>A , CM000670.2:g.115413773G>A	GRCh38
NC_000008.10:g.116426001G>A , CM000670.1:g.116426001G>A	GRCh37
NC_000008.9:g.116495177G>A	NCBI36
NG_012383.3:g.260229C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395715.8:c.*250C>T MANE Select	ENSP00000379065.3:n.*250C>T
ENST00000640765.1:c.*250C>T	ENSP00000492037.1:n.*250C>T
ENST00000220888.9:c.*250C>T	ENSP00000220888.5:n.*250C>T
ENST00000395715.7:c.*250C>T	ENSP00000379065.3:n.*250C>T
NM_001282902.2:c.*250C>T	NP_001269831.1:n.*250C>T
NM_001282903.2:c.*250C>T	NP_001269832.1:n.*250C>T
NM_014112.4:c.*250C>T	NP_054831.2:n.*250C>T
XM_005251049.2:c.*250C>T	XP_005251106.1:n.*250C>T
XM_006716625.1:c.*250C>T	XP_006716688.1:n.*250C>T
XM_011517264.1:c.*250C>T	XP_011515566.1:n.*250C>T
XM_011517265.1:c.*250C>T	XP_011515567.1:n.*250C>T
XM_011517266.1:c.*250C>T	XP_011515568.1:n.*250C>T
XM_011517267.1:c.*250C>T	XP_011515569.1:n.*250C>T
XM_011517268.1:c.*250C>T	XP_011515570.1:n.*250C>T
NM_001330599.1:c.*250C>T	NP_001317528.1:n.*250C>T
XM_011517264.2:c.*250C>T	XP_011515566.1:n.*250C>T
XM_011517266.3:c.*250C>T	XP_011515568.1:n.*250C>T
XM_011517268.2:c.*250C>T	XP_011515570.1:n.*250C>T
NM_001282902.3:c.*250C>T	NP_001269831.1:n.*250C>T
NM_001282903.3:c.*250C>T	NP_001269832.1:n.*250C>T
NM_001330599.2:c.*250C>T	NP_001317528.1:n.*250C>T
NM_014112.5:c.*250C>T MANE Select	NP_054831.2:n.*250C>T