Canonical Allele Identifier: CA4470872
Community Standard Title: NM_000883.4(IMPDH1):c.1280C>T (p.Pro427Leu)
Gene: IMPDH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128395256G>A , CM000669.2:g.128395256G>A GRCh38
NC_000007.13:g.128035310G>A , CM000669.1:g.128035310G>A GRCh37
NC_000007.12:g.127822546G>A NCBI36
NG_009194.1:g.19727C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000883.4:c.1280C>T MANE Select NP_000874.2:p.Pro427Leu
ENST00000338791.11:c.1280C>T MANE Select ENSP00000345096.6:p.Pro427Leu
NM_000883.3:c.1280C>T NP_000874.2:p.Pro427Leu
NM_001102605.1:c.1250C>T NP_001096075.1:p.Pro417Leu
NM_001102605.2:c.1250C>T NP_001096075.1:p.Pro417Leu
NM_001142573.1:c.1025C>T NP_001136045.1:p.Pro342Leu
NM_001142573.2:c.1025C>T NP_001136045.1:p.Pro342Leu
NM_001142574.1:c.1010C>T NP_001136046.1:p.Pro337Leu
NM_001142574.2:c.1010C>T NP_001136046.1:p.Pro337Leu
NM_001142575.1:c.950C>T NP_001136047.1:p.Pro317Leu
NM_001142575.2:c.950C>T NP_001136047.1:p.Pro317Leu
NM_001142576.1:c.1181C>T NP_001136048.1:p.Pro394Leu
NM_001142576.2:c.1181C>T NP_001136048.1:p.Pro394Leu
NM_001304521.1:c.1073C>T NP_001291450.1:p.Pro358Leu
NM_001304521.2:c.1073C>T NP_001291450.1:p.Pro358Leu
NM_183243.2:c.1172C>T NP_899066.1:p.Pro391Leu
NM_183243.3:c.1172C>T NP_899066.1:p.Pro391Leu
ENST00000338791.10:c.1280C>T ENSP00000345096.6:p.Pro427Leu
ENST00000348127.10:c.1172C>T ENSP00000265385.8:p.Pro391Leu
ENST00000348127.11:c.1172C>T ENSP00000265385.8:p.Pro391Leu
ENST00000354269.9:c.1250C>T ENSP00000346219.5:p.Pro417Leu
ENST00000419067.6:c.1181C>T ENSP00000399400.2:p.Pro394Leu
ENST00000469328.5:c.1045C>T
ENST00000470772.5:c.1022C>T ENSP00000417296.1:p.Pro341Leu
ENST00000480861.5:c.1010C>T ENSP00000420185.1:p.Pro337Leu
ENST00000484496.5:c.1155C>T ENSP00000418742.1:n.1155C>T
ENST00000484496.6:n.1155C>T
ENST00000496200.5:c.950C>T ENSP00000420803.1:p.Pro317Leu
ENST00000626419.2:c.1022C>T ENSP00000486056.1:p.Pro341Leu
ENST00000648462.1:c.912C>T
XM_005250314.1:c.1049C>T XP_005250371.1:p.Pro350Leu
XM_006715967.1:c.1280C>T XP_006716030.1:p.Pro427Leu
XM_006715968.1:c.1250C>T XP_006716031.1:p.Pro417Leu
XM_006715969.1:c.1172C>T XP_006716032.1:p.Pro391Leu
XM_006715970.2:c.1073C>T XP_006716033.1:p.Pro358Leu
XM_006715971.1:c.1049C>T XP_006716034.1:p.Pro350Leu
XM_011516156.1:c.662C>T XP_011514458.1:p.Pro221Leu
XM_011516157.1:c.662C>T XP_011514459.1:p.Pro221Leu
XM_017012172.1:c.1049C>T XP_016867661.1:p.Pro350Leu
XM_017012173.1:c.*16C>T XP_016867662.1:n.*16C>T
XM_024446755.1:c.1250C>T XP_024302523.1:p.Pro417Leu
XM_024446756.1:c.1172C>T XP_024302524.1:p.Pro391Leu
XM_024446757.1:c.1073C>T XP_024302525.1:p.Pro358Leu
XM_024446758.1:c.1049C>T XP_024302526.1:p.Pro350Leu