Canonical Allele Identifier: CA375138571
Community Standard Title: NM_000755.5(CRAT):c.1841T>C (p.Met614Thr)
Gene: CRAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129095437A>G , CM000671.2:g.129095437A>G GRCh38
NC_000009.11:g.131857716A>G , CM000671.1:g.131857716A>G GRCh37
NC_000009.10:g.130897537A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_000755.5:c.1841T>C MANE Select NP_000746.3:p.Met614Thr
ENST00000318080.7:c.1841T>C MANE Select ENSP00000315013.2:p.Met614Thr
NM_000755.3:c.1841T>C NP_000746.2:p.Met614Thr
NM_000755.4:c.1841T>C NP_000746.2:p.Met614Thr
NM_001257363.1:c.1778T>C NP_001244292.1:p.Met593Thr
NM_001257363.2:c.1778T>C NP_001244292.1:p.Met593Thr
NM_001257363.3:c.1778T>C NP_001244292.2:p.Met593Thr
NM_001346546.1:c.1844T>C NP_001333475.1:p.Met615Thr
NM_001346546.2:c.1844T>C NP_001333475.2:p.Met615Thr
NM_001346547.1:c.1769T>C NP_001333476.1:p.Met590Thr
NM_001346547.2:c.1769T>C NP_001333476.2:p.Met590Thr
NM_001346548.1:c.1706T>C NP_001333477.1:p.Met569Thr
NM_001346548.2:c.1706T>C NP_001333477.2:p.Met569Thr
NM_001346549.1:c.1721T>C NP_001333478.1:p.Met574Thr
NM_001346549.2:c.1721T>C NP_001333478.2:p.Met574Thr
NM_004003.3:c.1778T>C NP_003994.2:p.Met593Thr
NM_004003.4:c.1778T>C NP_003994.3:p.Met593Thr
ENST00000318080.6:c.1841T>C ENSP00000315013.2:p.Met614Thr
ENST00000455396.1:c.564T>C
ENST00000455396.2:c.1721T>C ENSP00000395458.2:p.Met574Thr
ENST00000458362.5:c.*1817T>C ENSP00000400367.1:n.*1817T>C
ENST00000679520.1:c.*1893T>C ENSP00000505259.1:n.*1893T>C
ENST00000679716.1:n.3835T>C
ENST00000680093.1:c.*1027T>C ENSP00000506286.1:n.*1027T>C
ENST00000680117.1:c.1725T>C ENSP00000505542.1:p.His575=
ENST00000680523.1:n.2823T>C
ENST00000681040.1:c.*1745T>C ENSP00000506678.1:n.*1745T>C
ENST00000681118.1:n.3307T>C
ENST00000681325.1:c.1616T>C ENSP00000506574.1:p.Met539Thr
ENST00000681622.1:c.*2097T>C ENSP00000505897.1:n.*2097T>C
ENST00000681627.1:c.1769T>C ENSP00000506267.1:p.Met590Thr
ENST00000681689.1:c.*1772T>C ENSP00000505435.1:n.*1772T>C
ENST00000681911.1:c.*1876T>C ENSP00000506533.1:n.*1876T>C
XM_005251706.2:c.1844T>C XP_005251763.1:p.Met615Thr
XM_005251708.2:c.1778T>C XP_005251765.1:p.Met593Thr
XM_005251708.4:c.1778T>C XP_005251765.1:p.Met593Thr
XM_017014275.1:c.1844T>C XP_016869764.1:p.Met615Thr
XM_024447414.1:c.1829T>C XP_024303182.1:p.Met610Thr