Canonical Allele Identifier: CA5275476

Gene: CRAT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129098620C>G , CM000671.2:g.129098620C>G	GRCh38
NC_000009.11:g.131860899C>G , CM000671.1:g.131860899C>G	GRCh37
NC_000009.10:g.130900720C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_000755.5:c.1116G>C MANE Select	NP_000746.3:p.Leu372=
ENST00000318080.7:c.1116G>C MANE Select	ENSP00000315013.2:p.Leu372=
NM_000755.3:c.1116G>C	NP_000746.2:p.Met372Ile
NM_000755.4:c.1116G>C	NP_000746.2:p.Met372Ile
NM_001257363.1:c.1053G>C	NP_001244292.1:p.Met351Ile
NM_001257363.2:c.1053G>C	NP_001244292.1:p.Met351Ile
NM_001257363.3:c.1053G>C	NP_001244292.2:p.Leu351=
NM_001346546.1:c.1119G>C	NP_001333475.1:p.Met373Ile
NM_001346546.2:c.1119G>C	NP_001333475.2:p.Leu373=
NM_001346547.1:c.1116G>C	NP_001333476.1:p.Met372Ile
NM_001346547.2:c.1116G>C	NP_001333476.2:p.Leu372=
NM_001346548.1:c.1053G>C	NP_001333477.1:p.Met351Ile
NM_001346548.2:c.1053G>C	NP_001333477.2:p.Leu351=
NM_001346549.1:c.996G>C	NP_001333478.1:p.Met332Ile
NM_001346549.2:c.996G>C	NP_001333478.2:p.Leu332=
NM_004003.3:c.1053G>C	NP_003994.2:p.Met351Ile
NM_004003.4:c.1053G>C	NP_003994.3:p.Leu351=
ENST00000318080.6:c.1116G>C	ENSP00000315013.2:p.Leu372=
ENST00000455396.2:c.996G>C	ENSP00000395458.2:p.Leu332=
ENST00000458362.5:c.*1092G>C	ENSP00000400367.1:n.*1092G>C
ENST00000679520.1:c.*1168G>C	ENSP00000505259.1:n.*1168G>C
ENST00000679716.1:n.3110G>C
ENST00000680093.1:c.*302G>C	ENSP00000506286.1:n.*302G>C
ENST00000680117.1:c.1116G>C	ENSP00000505542.1:p.Leu372=
ENST00000680523.1:n.1398G>C
ENST00000681040.1:c.*1092G>C	ENSP00000506678.1:n.*1092G>C
ENST00000681118.1:n.2582G>C
ENST00000681325.1:c.1116G>C	ENSP00000506574.1:p.Leu372=
ENST00000681622.1:c.*1372G>C	ENSP00000505897.1:n.*1372G>C
ENST00000681627.1:c.1116G>C	ENSP00000506267.1:p.Leu372=
ENST00000681689.1:c.*1092G>C	ENSP00000505435.1:n.*1092G>C
ENST00000681725.1:c.1116G>C	ENSP00000505817.1:p.Leu372=
ENST00000681911.1:c.*1151G>C	ENSP00000506533.1:n.*1151G>C
XM_005251706.2:c.1119G>C	XP_005251763.1:p.Leu373=
XM_005251708.2:c.1053G>C	XP_005251765.1:p.Leu351=
XM_005251708.4:c.1053G>C	XP_005251765.1:p.Leu351=
XM_017014275.1:c.1119G>C	XP_016869764.1:p.Leu373=
XM_024447414.1:c.1104G>C	XP_024303182.1:p.Leu368=