Canonical Allele Identifier: CA502426686
Gene: PYCR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.79892997G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.81935121G>T , CM000679.2:g.81935121G>T GRCh38
NC_000017.10:g.79892997G>T , CM000679.1:g.79892997G>T GRCh37
NC_000017.9:g.77486288G>T NCBI36
NG_023032.1:g.6972C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000329875.13:c.345C>A MANE Select ENSP00000328858.8:p.Pro115=
ENST00000329875.12:c.345C>A ENSP00000328858.8:p.Pro115=
ENST00000337943.9:c.345C>A ENSP00000336579.5:p.Pro115=
ENST00000402252.6:c.426C>A ENSP00000384949.2:p.Pro142=
ENST00000403172.8:c.345C>A ENSP00000385483.4:p.Pro115=
ENST00000405481.8:c.345C>A ENSP00000386002.4:p.Pro115=
ENST00000577624.5:c.162C>A ENSP00000464098.1:p.Pro54=
ENST00000577756.5:c.345C>A ENSP00000463352.1:p.Pro115=
ENST00000579366.5:c.255C>A ENSP00000462398.1:p.Pro85=
ENST00000579698.5:c.345C>A ENSP00000463601.1:p.Pro115=
ENST00000581271.5:c.345C>A ENSP00000464440.1:p.Pro115=
ENST00000582198.5:c.255C>A ENSP00000463226.1:p.Pro85=
ENST00000584848.5:c.306C>A ENSP00000463342.1:p.Pro102=
ENST00000585215.5:c.345C>A ENSP00000463343.1:p.Pro115=
ENST00000619204.4:c.345C>A ENSP00000479793.1:p.Pro115=
ENST00000629768.2:c.345C>A ENSP00000485679.1:p.Pro115=
NM_001282279.1:c.345C>A NP_001269208.1:p.Pro115=
NM_001282280.1:c.345C>A NP_001269209.1:p.Pro115=
NM_001282281.1:c.426C>A NP_001269210.1:p.Pro142=
NM_006907.3:c.345C>A NP_008838.2:p.Pro115=
NM_153824.2:c.345C>A NP_722546.1:p.Pro115=
XM_005256381.1:c.345C>A XP_005256438.1:p.Pro115=
XM_011523583.1:c.345C>A XP_011521885.1:p.Pro115=
XM_011523584.1:c.345C>A XP_011521886.1:p.Pro115=
XM_011523585.1:c.426C>A XP_011521887.1:p.Pro142=
NM_001330523.1:c.345C>A NP_001317452.1:p.Pro115=
XM_005256381.2:c.345C>A XP_005256438.1:p.Pro115=
XM_011523583.2:c.345C>A XP_011521885.1:p.Pro115=
XM_011523584.3:c.345C>A XP_011521886.1:p.Pro115=
XM_011523585.2:c.426C>A XP_011521887.1:p.Pro142=
XM_024450849.1:c.345C>A XP_024306617.1:p.Pro115=
NM_001282279.2:c.345C>A NP_001269208.1:p.Pro115=
NM_001282281.2:c.426C>A NP_001269210.1:p.Pro142=
NM_006907.4:c.345C>A MANE Select NP_008838.2:p.Pro115=
NM_153824.3:c.345C>A NP_722546.1:p.Pro115=
NM_001282280.2:c.345C>A NP_001269209.1:p.Pro115=
NM_001330523.2:c.345C>A NP_001317452.1:p.Pro115=