Canonical Allele Identifier: CA9909219
Community Standard Title: NM_003859.3(DPM1):c.161+21C>G
Gene: DPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.50958342G>C , CM000682.2:g.50958342G>C GRCh38
NC_000020.10:g.49574879G>C , CM000682.1:g.49574879G>C GRCh37
NC_000020.9:g.49008286G>C NCBI36
NG_008923.1:g.5182C>G

Transcript Alleles

HGVS Amino-acid Change
NM_003859.3:c.161+21C>G MANE Select NP_003850.1:n.161+21C>G
ENST00000371588.10:c.161+21C>G MANE Select ENSP00000360644.5:n.161+21C>G
NM_001317034.1:c.161+21C>G NP_001303963.1:n.161+21C>G
NM_001317035.1:c.161+21C>G NP_001303964.1:n.161+21C>G
NM_001317036.1:c.161+21C>G NP_001303965.1:n.161+21C>G
NM_003859.1:c.161+21C>G NP_003850.1:n.161+21C>G
NM_003859.2:c.161+21C>G NP_003850.1:n.161+21C>G
NR_133648.1:n.202+21C>G
NR_133648.2:n.170+21C>G
ENST00000371582.8:c.161+21C>G ENSP00000360638.4:n.161+21C>G
ENST00000371584.8:c.159+21C>G
ENST00000371584.9:c.161+21C>G ENSP00000360640.5:n.161+21C>G
ENST00000371588.9:c.161+21C>G ENSP00000360644.5:n.161+21C>G
ENST00000413082.1:c.161+21C>G ENSP00000394921.1:n.161+21C>G
ENST00000466152.5:n.188+21C>G
ENST00000681979.1:n.55+21C>G
ENST00000682754.1:n.159+21C>G
ENST00000683048.1:c.161+21C>G ENSP00000506986.1:n.161+21C>G
ENST00000683466.1:c.-155+399C>G ENSP00000507404.1:n.-155+399C>G
ENST00000684628.1:n.170+21C>G
ENST00000684708.1:n.90+21C>G
XM_011529093.1:c.161+21C>G XP_011527395.1:n.161+21C>G
XM_011529094.1:c.161+21C>G XP_011527396.1:n.161+21C>G
XR_002958550.1:n.199+21C>G
XR_002958551.1:n.200+21C>G