Canonical Allele Identifier: CA5275222

Gene: CRAT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129095408C>G , CM000671.2:g.129095408C>G	GRCh38
NC_000009.11:g.131857687C>G , CM000671.1:g.131857687C>G	GRCh37
NC_000009.10:g.130897508C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318080.7:c.1870G>C MANE Select	ENSP00000315013.2:p.Ala624Pro
ENST00000455396.2:c.1750G>C	ENSP00000395458.2:p.Ala584Pro
ENST00000679520.1:c.*1922G>C	ENSP00000505259.1:n.*1922G>C
ENST00000679716.1:n.3864G>C
ENST00000680093.1:c.*1056G>C	ENSP00000506286.1:n.*1056G>C
ENST00000680117.1:c.1754G>C	ENSP00000505542.1:p.Gly585Ala
ENST00000680523.1:n.2852G>C
ENST00000681040.1:c.*1774G>C	ENSP00000506678.1:n.*1774G>C
ENST00000681118.1:n.3336G>C
ENST00000681325.1:c.1645G>C	ENSP00000506574.1:p.Ala549Pro
ENST00000681622.1:c.*2126G>C	ENSP00000505897.1:n.*2126G>C
ENST00000681627.1:c.1798G>C	ENSP00000506267.1:p.Ala600Pro
ENST00000681689.1:c.*1801G>C	ENSP00000505435.1:n.*1801G>C
ENST00000681911.1:c.*1905G>C	ENSP00000506533.1:n.*1905G>C
ENST00000318080.6:c.1870G>C	ENSP00000315013.2:p.Ala624Pro
ENST00000455396.1:c.593G>C
ENST00000458362.5:c.*1846G>C	ENSP00000400367.1:n.*1846G>C
NM_000755.3:c.1870G>C	NP_000746.2:p.Ala624Pro
NM_001257363.1:c.1807G>C	NP_001244292.1:p.Ala603Pro
XM_005251706.2:c.1873G>C	XP_005251763.1:p.Ala625Pro
XM_005251708.2:c.1807G>C	XP_005251765.1:p.Ala603Pro
NM_000755.4:c.1870G>C	NP_000746.2:p.Ala624Pro
NM_001257363.2:c.1807G>C	NP_001244292.1:p.Ala603Pro
NM_001346546.1:c.1873G>C	NP_001333475.1:p.Ala625Pro
NM_001346547.1:c.1798G>C	NP_001333476.1:p.Ala600Pro
NM_001346548.1:c.1735G>C	NP_001333477.1:p.Ala579Pro
NM_001346549.1:c.1750G>C	NP_001333478.1:p.Ala584Pro
NM_004003.3:c.1807G>C	NP_003994.2:p.Ala603Pro
XM_005251708.4:c.1807G>C	XP_005251765.1:p.Ala603Pro
XM_017014275.1:c.1873G>C	XP_016869764.1:p.Ala625Pro
XM_024447414.1:c.1858G>C	XP_024303182.1:p.Ala620Pro
NM_000755.5:c.1870G>C MANE Select	NP_000746.3:p.Ala624Pro
NM_001257363.3:c.1807G>C	NP_001244292.2:p.Ala603Pro
NM_001346546.2:c.1873G>C	NP_001333475.2:p.Ala625Pro
NM_001346547.2:c.1798G>C	NP_001333476.2:p.Ala600Pro
NM_001346548.2:c.1735G>C	NP_001333477.2:p.Ala579Pro
NM_001346549.2:c.1750G>C	NP_001333478.2:p.Ala584Pro
NM_004003.4:c.1807G>C	NP_003994.3:p.Ala603Pro