Canonical Allele Identifier: CA4255755

Gene: UPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.48103390A>T , CM000669.2:g.48103390A>T	GRCh38
NC_000007.13:g.48142987A>T , CM000669.1:g.48142987A>T	GRCh37
NC_000007.12:g.48109512A>T	NCBI36
NG_051802.1:g.19788A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395564.9:c.415A>T MANE Select	ENSP00000378931.4:p.Ile139Phe
ENST00000331803.8:c.415A>T	ENSP00000330032.4:p.Ile139Phe
ENST00000395560.7:c.45-3483A>T	ENSP00000378927.3:n.45-3483A>T
ENST00000395564.8:c.415A>T	ENSP00000378931.4:p.Ile139Phe
ENST00000416681.5:c.415A>T	ENSP00000405209.1:p.Ile139Phe
ENST00000417464.6:c.45-3483A>T	ENSP00000413611.2:n.45-3483A>T
ENST00000421046.5:c.415A>T	ENSP00000414963.1:p.Ile139Phe
ENST00000436673.5:c.415A>T	ENSP00000390118.1:p.Ile139Phe
ENST00000444999.5:c.*45A>T	ENSP00000396820.1:n.*45A>T
ENST00000457596.5:c.45-3483A>T	ENSP00000408899.1:n.45-3483A>T
ENST00000482015.5:n.302+1520A>T
NM_001287426.1:c.415A>T	NP_001274355.1:p.Ile139Phe
NM_001287428.1:c.26-3483A>T	NP_001274357.1:n.26-3483A>T
NM_001287429.1:c.26-3483A>T	NP_001274358.1:n.26-3483A>T
NM_001287430.1:c.26-3483A>T	NP_001274359.1:n.26-3483A>T
NM_003364.3:c.415A>T	NP_003355.1:p.Ile139Phe
NR_109837.1:n.392+1520A>T
XM_005249838.3:c.223A>T	XP_005249895.1:p.Ile75Phe
XM_006715771.2:c.415A>T	XP_006715834.1:p.Ile139Phe
XM_011515512.1:c.415A>T	XP_011513814.1:p.Ile139Phe
XM_011515513.1:c.166A>T	XP_011513815.1:p.Ile56Phe
XM_011515514.1:c.166A>T	XP_011513816.1:p.Ile56Phe
XM_011515515.1:c.88A>T	XP_011513817.1:p.Ile30Phe
XM_011515516.1:c.415A>T	XP_011513818.1:p.Ile139Phe
NM_001362774.1:c.415A>T	NP_001349703.1:p.Ile139Phe
XM_005249838.4:c.223A>T	XP_005249895.1:p.Ile75Phe
XM_011515512.2:c.415A>T	XP_011513814.1:p.Ile139Phe
XM_011515513.2:c.166A>T	XP_011513815.1:p.Ile56Phe
XM_011515514.2:c.166A>T	XP_011513816.1:p.Ile56Phe
XM_011515515.2:c.88A>T	XP_011513817.1:p.Ile30Phe
NM_003364.4:c.415A>T MANE Select	NP_003355.1:p.Ile139Phe
NM_001287429.2:c.26-3483A>T	NP_001274358.1:n.26-3483A>T
NM_001287426.2:c.415A>T	NP_001274355.1:p.Ile139Phe
NM_001287428.2:c.26-3483A>T	NP_001274357.1:n.26-3483A>T
NM_001362774.2:c.415A>T	NP_001349703.1:p.Ile139Phe