Canonical Allele Identifier: CA5275388
Community Standard Title: NM_000755.5(CRAT):c.1405C>T (p.Arg469Cys)
Gene: CRAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129098072G>A , CM000671.2:g.129098072G>A GRCh38
NC_000009.11:g.131860351G>A , CM000671.1:g.131860351G>A GRCh37
NC_000009.10:g.130900172G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_000755.5:c.1405C>T MANE Select NP_000746.3:p.Arg469Cys
ENST00000318080.7:c.1405C>T MANE Select ENSP00000315013.2:p.Arg469Cys
NM_000755.3:c.1405C>T NP_000746.2:p.Arg469Cys
NM_000755.4:c.1405C>T NP_000746.2:p.Arg469Cys
NM_001257363.1:c.1342C>T NP_001244292.1:p.Arg448Cys
NM_001257363.2:c.1342C>T NP_001244292.1:p.Arg448Cys
NM_001257363.3:c.1342C>T NP_001244292.2:p.Arg448Cys
NM_001346546.1:c.1408C>T NP_001333475.1:p.Arg470Cys
NM_001346546.2:c.1408C>T NP_001333475.2:p.Arg470Cys
NM_001346547.1:c.1405C>T NP_001333476.1:p.Arg469Cys
NM_001346547.2:c.1405C>T NP_001333476.2:p.Arg469Cys
NM_001346548.1:c.1342C>T NP_001333477.1:p.Arg448Cys
NM_001346548.2:c.1342C>T NP_001333477.2:p.Arg448Cys
NM_001346549.1:c.1285C>T NP_001333478.1:p.Arg429Cys
NM_001346549.2:c.1285C>T NP_001333478.2:p.Arg429Cys
NM_004003.3:c.1342C>T NP_003994.2:p.Arg448Cys
NM_004003.4:c.1342C>T NP_003994.3:p.Arg448Cys
ENST00000318080.6:c.1405C>T ENSP00000315013.2:p.Arg469Cys
ENST00000455396.1:c.200C>T
ENST00000455396.2:c.1285C>T ENSP00000395458.2:p.Arg429Cys
ENST00000458362.5:c.*1381C>T ENSP00000400367.1:n.*1381C>T
ENST00000679520.1:c.*1457C>T ENSP00000505259.1:n.*1457C>T
ENST00000679716.1:n.3399C>T
ENST00000680093.1:c.*591C>T ENSP00000506286.1:n.*591C>T
ENST00000680117.1:c.1405C>T ENSP00000505542.1:p.Arg469Cys
ENST00000680523.1:n.1687C>T
ENST00000681040.1:c.*1381C>T ENSP00000506678.1:n.*1381C>T
ENST00000681118.1:n.2871C>T
ENST00000681325.1:c.1317+188C>T ENSP00000506574.1:n.1317+188C>T
ENST00000681622.1:c.*1661C>T ENSP00000505897.1:n.*1661C>T
ENST00000681627.1:c.1405C>T ENSP00000506267.1:p.Arg469Cys
ENST00000681689.1:c.*1381C>T ENSP00000505435.1:n.*1381C>T
ENST00000681725.1:c.1405C>T ENSP00000505817.1:p.Arg469Cys
ENST00000681911.1:c.*1440C>T ENSP00000506533.1:n.*1440C>T
XM_005251706.2:c.1408C>T XP_005251763.1:p.Arg470Cys
XM_005251708.2:c.1342C>T XP_005251765.1:p.Arg448Cys
XM_005251708.4:c.1342C>T XP_005251765.1:p.Arg448Cys
XM_017014275.1:c.1408C>T XP_016869764.1:p.Arg470Cys
XM_024447414.1:c.1393C>T XP_024303182.1:p.Arg465Cys