Canonical Allele Identifier: CA408987621
Community Standard Title: NM_003859.3(DPM1):c.571C>T (p.Arg191Ter)
Gene: DPM1 HGNC NCBI
ADNP-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.50936255G>A , CM000682.2:g.50936255G>A GRCh38
NC_000020.10:g.49552792G>A , CM000682.1:g.49552792G>A GRCh37
NC_000020.9:g.48986199G>A NCBI36
NG_008923.1:g.27269C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003859.3:c.571C>T (DPM1) MANE Select NP_003850.1:p.Arg191Ter
ENST00000371588.10:c.571C>T (DPM1) MANE Select ENSP00000360644.5:p.Arg191Ter
NM_001317034.1:c.676C>T (DPM1) NP_001303963.1:p.Arg226Ter
NM_001317035.1:c.652C>T (DPM1) NP_001303964.1:p.Arg218Ter
NM_001317036.1:c.502C>T (DPM1) NP_001303965.1:p.Arg168Ter
NM_003859.1:c.571C>T (DPM1) NP_003850.1:p.Arg191Ter
NM_003859.2:c.571C>T (DPM1) NP_003850.1:p.Arg191Ter
NR_110007.1:n.250+2428G>A (ADNP-AS1)
NR_110008.1:n.149+4806G>A (ADNP-AS1)
NR_110009.1:n.146+4806G>A (ADNP-AS1)
NR_133648.1:n.634C>T (DPM1)
NR_133648.2:n.602C>T (DPM1)
ENST00000371582.8:c.652C>T (DPM1) ENSP00000360638.4:p.Arg218Ter
ENST00000371584.8:c.674C>T (DPM1)
ENST00000371584.9:c.676C>T (DPM1) ENSP00000360640.5:p.Arg226Ter
ENST00000371588.9:c.571C>T (DPM1) ENSP00000360644.5:p.Arg191Ter
ENST00000413082.1:c.556C>T (DPM1) ENSP00000394921.1:p.Arg186Ter
ENST00000466152.5:n.620C>T (DPM1)
ENST00000494752.1:n.341C>T (DPM1)
ENST00000681979.1:n.549C>T (DPM1)
ENST00000682366.1:n.916C>T (DPM1)
ENST00000682713.1:n.1051C>T (DPM1)
ENST00000683048.1:c.*86C>T (DPM1) ENSP00000506986.1:n.*86C>T
ENST00000683466.1:c.187C>T (DPM1) ENSP00000507404.1:p.Arg63Ter
ENST00000684193.1:n.1342C>T (DPM1)
ENST00000684708.1:n.606C>T (DPM1)
XR_002958550.1:n.634C>T (DPM1)
XR_002958551.1:n.515C>T (DPM1)