Canonical Allele Identifier: CA658682977
Community Standard Title: NM_004363.6(CEACAM5):c.1192G>T (p.Glu398Ter)
Gene: CEACAM5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41717688G>T , CM000681.2:g.41717688G>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
NM_004363.6:c.1192G>T MANE Select NP_004354.3:p.Glu398Ter
ENST00000221992.11:c.1192G>T MANE Select ENSP00000221992.5:p.Glu398Ter
NM_001291484.1:c.1192G>T NP_001278413.1:p.Glu398Ter
NM_001291484.2:c.1192G>T NP_001278413.1:p.Glu398Ter
NM_001291484.3:c.1192G>T NP_001278413.1:p.Glu398Ter
NM_001308398.1:c.1189G>T NP_001295327.1:p.Glu397Ter
NM_001308398.2:c.1189G>T NP_001295327.1:p.Glu397Ter
NM_004363.4:c.1192G>T NP_004354.3:p.Glu398Ter
NM_004363.5:c.1192G>T NP_004354.3:p.Glu398Ter
ENST00000221992.10:c.1192G>T ENSP00000221992.5:p.Glu398Ter
ENST00000398599.8:c.1189G>T ENSP00000381600.4:p.Glu397Ter
ENST00000405816.5:c.1192G>T ENSP00000385072.1:p.Glu398Ter
ENST00000435837.2:c.64+8893G>T ENSP00000469926.1:n.64+8893G>T
ENST00000595403.1:c.325-2242G>T
ENST00000598976.1:c.424+7649G>T ENSP00000469421.1:n.424+7649G>T
ENST00000615021.4:c.658G>T ENSP00000482157.1:p.Glu220Ter
ENST00000616453.1:c.613-2430G>T ENSP00000480800.1:n.613-2430G>T
ENST00000617332.4:c.1192G>T ENSP00000482303.1:p.Glu398Ter
XM_005258413.3:c.1192G>T XP_005258470.2:p.Glu398Ter
XM_011526322.1:c.704-440G>T XP_011524624.1:n.704-440G>T
XM_011526322.2:c.704-440G>T XP_011524624.1:n.704-440G>T
XM_017026145.2:c.1189G>T XP_016881634.1:p.Glu397Ter
XM_017026146.2:c.937G>T XP_016881635.1:p.Glu313Ter