Canonical Allele Identifier: CA5275317

Gene: CRAT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129096110C>T , CM000671.2:g.129096110C>T	GRCh38
NC_000009.11:g.131858389C>T , CM000671.1:g.131858389C>T	GRCh37
NC_000009.10:g.130898210C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_000755.5:c.1553G>A MANE Select	NP_000746.3:p.Arg518Gln
ENST00000318080.7:c.1553G>A MANE Select	ENSP00000315013.2:p.Arg518Gln
NM_000755.3:c.1553G>A	NP_000746.2:p.Arg518Gln
NM_000755.4:c.1553G>A	NP_000746.2:p.Arg518Gln
NM_001257363.1:c.1490G>A	NP_001244292.1:p.Arg497Gln
NM_001257363.2:c.1490G>A	NP_001244292.1:p.Arg497Gln
NM_001257363.3:c.1490G>A	NP_001244292.2:p.Arg497Gln
NM_001346546.1:c.1556G>A	NP_001333475.1:p.Arg519Gln
NM_001346546.2:c.1556G>A	NP_001333475.2:p.Arg519Gln
NM_001346547.1:c.1553G>A	NP_001333476.1:p.Arg518Gln
NM_001346547.2:c.1553G>A	NP_001333476.2:p.Arg518Gln
NM_001346548.1:c.1490G>A	NP_001333477.1:p.Arg497Gln
NM_001346548.2:c.1490G>A	NP_001333477.2:p.Arg497Gln
NM_001346549.1:c.1433G>A	NP_001333478.1:p.Arg478Gln
NM_001346549.2:c.1433G>A	NP_001333478.2:p.Arg478Gln
NM_004003.3:c.1490G>A	NP_003994.2:p.Arg497Gln
NM_004003.4:c.1490G>A	NP_003994.3:p.Arg497Gln
ENST00000318080.6:c.1553G>A	ENSP00000315013.2:p.Arg518Gln
ENST00000455396.1:c.348G>A
ENST00000455396.2:c.1433G>A	ENSP00000395458.2:p.Arg478Gln
ENST00000458362.5:c.*1529G>A	ENSP00000400367.1:n.*1529G>A
ENST00000467343.1:n.130G>A
ENST00000679520.1:c.*1605G>A	ENSP00000505259.1:n.*1605G>A
ENST00000679716.1:n.3547G>A
ENST00000680093.1:c.*739G>A	ENSP00000506286.1:n.*739G>A
ENST00000680117.1:c.1553G>A	ENSP00000505542.1:p.Arg518Gln
ENST00000680523.1:n.2535G>A
ENST00000681040.1:c.*1529G>A	ENSP00000506678.1:n.*1529G>A
ENST00000681118.1:n.3019G>A
ENST00000681325.1:c.1328G>A	ENSP00000506574.1:p.Arg443Gln
ENST00000681622.1:c.*1809G>A	ENSP00000505897.1:n.*1809G>A
ENST00000681627.1:c.1553G>A	ENSP00000506267.1:p.Arg518Gln
ENST00000681689.1:c.*1504-20G>A	ENSP00000505435.1:n.*1504-20G>A
ENST00000681725.1:c.1553G>A	ENSP00000505817.1:p.Arg518Gln
ENST00000681911.1:c.*1588G>A	ENSP00000506533.1:n.*1588G>A
XM_005251706.2:c.1556G>A	XP_005251763.1:p.Arg519Gln
XM_005251708.2:c.1490G>A	XP_005251765.1:p.Arg497Gln
XM_005251708.4:c.1490G>A	XP_005251765.1:p.Arg497Gln
XM_017014275.1:c.1556G>A	XP_016869764.1:p.Arg519Gln
XM_024447414.1:c.1541G>A	XP_024303182.1:p.Arg514Gln