Canonical Allele Identifier: CA502333840
Gene: PYCR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.79891105T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.81933229T>C , CM000679.2:g.81933229T>C GRCh38
NC_000017.10:g.79891105T>C , CM000679.1:g.79891105T>C GRCh37
NC_000017.9:g.77484396T>C NCBI36
NG_023032.1:g.8864A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329875.13:c.945A>G MANE Select ENSP00000328858.8:p.Pro315=
ENST00000329875.12:c.945A>G ENSP00000328858.8:p.Pro315=
ENST00000337943.9:c.867+78A>G ENSP00000336579.5:n.867+78A>G
ENST00000402252.6:c.1026A>G ENSP00000384949.2:p.Pro342=
ENST00000403172.8:c.852A>G ENSP00000385483.4:p.Pro284=
ENST00000577756.5:c.*127A>G ENSP00000463352.1:n.*127A>G
ENST00000584848.5:c.649A>G ENSP00000463342.1:n.649A>G
ENST00000619204.4:c.945A>G ENSP00000479793.1:p.Pro315=
ENST00000629768.2:c.*127A>G ENSP00000485679.1:n.*127A>G
NM_001282279.1:c.852A>G NP_001269208.1:p.Pro284=
NM_001282280.1:c.945A>G NP_001269209.1:p.Pro315=
NM_001282281.1:c.1026A>G NP_001269210.1:p.Pro342=
NM_006907.3:c.945A>G NP_008838.2:p.Pro315=
NM_153824.2:c.867+78A>G NP_722546.1:n.867+78A>G
XM_005256381.1:c.945A>G XP_005256438.1:p.Pro315=
XM_011523583.1:c.945A>G XP_011521885.1:p.Pro315=
XM_011523584.1:c.945A>G XP_011521886.1:p.Pro315=
XM_011523585.1:c.*127A>G XP_011521887.1:n.*127A>G
NM_001330523.1:c.*127A>G NP_001317452.1:n.*127A>G
XM_005256381.2:c.945A>G XP_005256438.1:p.Pro315=
XM_011523583.2:c.945A>G XP_011521885.1:p.Pro315=
XM_011523584.3:c.945A>G XP_011521886.1:p.Pro315=
XM_011523585.2:c.*127A>G XP_011521887.1:n.*127A>G
XM_024450849.1:c.945A>G XP_024306617.1:p.Pro315=
NM_001282279.2:c.852A>G NP_001269208.1:p.Pro284=
NM_001282281.2:c.1026A>G NP_001269210.1:p.Pro342=
NM_006907.4:c.945A>G MANE Select NP_008838.2:p.Pro315=
NM_153824.3:c.867+78A>G NP_722546.1:n.867+78A>G
NM_001282280.2:c.945A>G NP_001269209.1:p.Pro315=
NM_001330523.2:c.*127A>G NP_001317452.1:n.*127A>G