Canonical Allele Identifier: CA399903609
Community Standard Title: NM_004527.4(MEOX1):c.664C>T (p.Arg222Ter)
Gene: MEOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43642011G>A , CM000679.2:g.43642011G>A GRCh38
NC_000017.10:g.41719379G>A , CM000679.1:g.41719379G>A GRCh37
NC_000017.9:g.39074905G>A NCBI36
NG_032987.1:g.24884C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004527.4:c.664C>T MANE Select NP_004518.1:p.Arg222Ter
ENST00000318579.9:c.664C>T MANE Select ENSP00000321684.4:p.Arg222Ter
NM_001040002.1:c.319C>T NP_001035091.1:p.Arg107Ter
NM_001040002.2:c.319C>T NP_001035091.1:p.Arg107Ter
NM_004527.3:c.664C>T NP_004518.1:p.Arg222Ter
NM_013999.3:c.491C>T NP_054705.1:p.Pro164Leu
NM_013999.4:c.491C>T NP_054705.1:p.Pro164Leu
ENST00000318579.8:c.664C>T ENSP00000321684.4:p.Arg222Ter
ENST00000329168.3:c.491C>T ENSP00000328678.3:p.Pro164Leu
ENST00000393661.2:c.319C>T ENSP00000377271.2:p.Arg107Ter
ENST00000549132.1:c.403C>T ENSP00000449049.1:p.Arg135Ter
ENST00000549132.2:c.491C>T ENSP00000449049.2:p.Pro164Leu
XM_011524818.1:c.675C>T XP_011523120.1:p.Thr225=
XM_011524818.2:c.675C>T XP_011523120.1:p.Thr225=