Canonical Allele Identifier: CA401538518
Gene: PYCR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.81935005C>A , CM000679.2:g.81935005C>A GRCh38
NC_000017.10:g.79892881C>A , CM000679.1:g.79892881C>A GRCh37
NC_000017.9:g.77486172C>A NCBI36
NG_023032.1:g.7088G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329875.13:c.461G>T MANE Select ENSP00000328858.8:p.Ser154Ile
ENST00000329875.12:c.461G>T ENSP00000328858.8:p.Ser154Ile
ENST00000337943.9:c.461G>T ENSP00000336579.5:p.Ser154Ile
ENST00000402252.6:c.542G>T ENSP00000384949.2:p.Ser181Ile
ENST00000403172.8:c.461G>T ENSP00000385483.4:p.Ser154Ile
ENST00000405481.8:c.461G>T ENSP00000386002.4:p.Ser154Ile
ENST00000577624.5:c.278G>T ENSP00000464098.1:p.Ser93Ile
ENST00000577756.5:c.461G>T ENSP00000463352.1:p.Ser154Ile
ENST00000579698.5:c.461G>T ENSP00000463601.1:p.Ser154Ile
ENST00000582198.5:c.371G>T ENSP00000463226.1:p.Ser124Ile
ENST00000584848.5:c.422G>T ENSP00000463342.1:p.Ser141Ile
ENST00000585215.5:c.461G>T ENSP00000463343.1:p.Ser154Ile
ENST00000619204.4:c.461G>T ENSP00000479793.1:p.Ser154Ile
ENST00000629768.2:c.461G>T ENSP00000485679.1:p.Ser154Ile
NM_001282279.1:c.461G>T NP_001269208.1:p.Ser154Ile
NM_001282280.1:c.461G>T NP_001269209.1:p.Ser154Ile
NM_001282281.1:c.542G>T NP_001269210.1:p.Ser181Ile
NM_006907.3:c.461G>T NP_008838.2:p.Ser154Ile
NM_153824.2:c.461G>T NP_722546.1:p.Ser154Ile
XM_005256381.1:c.461G>T XP_005256438.1:p.Ser154Ile
XM_011523583.1:c.461G>T XP_011521885.1:p.Ser154Ile
XM_011523584.1:c.461G>T XP_011521886.1:p.Ser154Ile
XM_011523585.1:c.542G>T XP_011521887.1:p.Ser181Ile
NM_001330523.1:c.461G>T NP_001317452.1:p.Ser154Ile
XM_005256381.2:c.461G>T XP_005256438.1:p.Ser154Ile
XM_011523583.2:c.461G>T XP_011521885.1:p.Ser154Ile
XM_011523584.3:c.461G>T XP_011521886.1:p.Ser154Ile
XM_011523585.2:c.542G>T XP_011521887.1:p.Ser181Ile
XM_024450849.1:c.461G>T XP_024306617.1:p.Ser154Ile
NM_001282279.2:c.461G>T NP_001269208.1:p.Ser154Ile
NM_001282281.2:c.542G>T NP_001269210.1:p.Ser181Ile
NM_006907.4:c.461G>T MANE Select NP_008838.2:p.Ser154Ile
NM_153824.3:c.461G>T NP_722546.1:p.Ser154Ile
NM_001282280.2:c.461G>T NP_001269209.1:p.Ser154Ile
NM_001330523.2:c.461G>T NP_001317452.1:p.Ser154Ile