Canonical Allele Identifier: CA408987062

Gene: DPM1 ADNP-AS1

Linked Data

• MyVariant Identifiers: chr20:g.49551698C>G (hg19) ; chr20:g.50935161C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50935161C>G , CM000682.2:g.50935161C>G	GRCh38
NC_000020.10:g.49551698C>G , CM000682.1:g.49551698C>G	GRCh37
NC_000020.9:g.48985105C>G	NCBI36
NG_008923.1:g.28363G>C
NG_034200.1:g.830G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371584.9:c.859G>C (DPM1)	ENSP00000360640.5:p.Gly287Arg
ENST00000682366.1:n.2010G>C (DPM1)
ENST00000682713.1:n.1234G>C (DPM1)
ENST00000683048.1:c.*269G>C (DPM1)	ENSP00000506986.1:n.*269G>C
ENST00000683466.1:c.370G>C (DPM1)	ENSP00000507404.1:p.Gly124Arg
ENST00000684193.1:n.1525G>C (DPM1)
ENST00000371588.10:c.754G>C (DPM1) MANE Select	ENSP00000360644.5:p.Gly252Arg
ENST00000371582.8:c.835G>C (DPM1)	ENSP00000360638.4:p.Gly279Arg
ENST00000371584.8:c.857G>C (DPM1)
ENST00000371588.9:c.754G>C (DPM1)	ENSP00000360644.5:p.Gly252Arg
ENST00000466152.5:n.803G>C (DPM1)
ENST00000494752.1:n.524G>C (DPM1)
NM_001317034.1:c.859G>C (DPM1)	NP_001303963.1:p.Gly287Arg
NM_001317035.1:c.835G>C (DPM1)	NP_001303964.1:p.Gly279Arg
NM_001317036.1:c.685G>C (DPM1)	NP_001303965.1:p.Gly229Arg
NM_003859.1:c.754G>C (DPM1)	NP_003850.1:p.Gly252Arg
NM_003859.2:c.754G>C (DPM1)	NP_003850.1:p.Gly252Arg
NR_110007.1:n.250+1334C>G (ADNP-AS1)
NR_110008.1:n.149+3712C>G (ADNP-AS1)
NR_110009.1:n.146+3712C>G (ADNP-AS1)
NR_133648.1:n.817G>C (DPM1)
XR_002958550.1:n.817G>C (DPM1)
XR_002958551.1:n.698G>C (DPM1)
NM_003859.3:c.754G>C (DPM1) MANE Select	NP_003850.1:p.Gly252Arg
NR_133648.2:n.785G>C (DPM1)