Canonical Allele Identifier: CA9909119

Gene: DPM1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50945717A>G , CM000682.2:g.50945717A>G	GRCh38
NC_000020.10:g.49562254A>G , CM000682.1:g.49562254A>G	GRCh37
NC_000020.9:g.48995661A>G	NCBI36
NG_008923.1:g.17807T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003859.3:c.398+20T>C MANE Select	NP_003850.1:n.398+20T>C
ENST00000371588.10:c.398+20T>C MANE Select	ENSP00000360644.5:n.398+20T>C
NM_001317034.1:c.398+20T>C	NP_001303963.1:n.398+20T>C
NM_001317035.1:c.398+20T>C	NP_001303964.1:n.398+20T>C
NM_001317036.1:c.398+20T>C	NP_001303965.1:n.398+20T>C
NM_003859.1:c.398+20T>C	NP_003850.1:n.398+20T>C
NM_003859.2:c.398+20T>C	NP_003850.1:n.398+20T>C
NR_133648.1:n.439+20T>C
NR_133648.2:n.407+20T>C
ENST00000371582.8:c.398+20T>C	ENSP00000360638.4:n.398+20T>C
ENST00000371584.8:c.396+20T>C
ENST00000371584.9:c.398+20T>C	ENSP00000360640.5:n.398+20T>C
ENST00000371588.9:c.398+20T>C	ENSP00000360644.5:n.398+20T>C
ENST00000413082.1:c.398+20T>C	ENSP00000394921.1:n.398+20T>C
ENST00000466152.5:n.425+20T>C
ENST00000494752.1:n.41+20T>C
ENST00000681979.1:n.376+20T>C
ENST00000682713.1:n.947+20T>C
ENST00000682754.1:n.480+20T>C
ENST00000683010.1:n.2105+20T>C
ENST00000683048.1:c.372+130T>C	ENSP00000506986.1:n.372+130T>C
ENST00000683466.1:c.83+20T>C	ENSP00000507404.1:n.83+20T>C
ENST00000684708.1:n.411+20T>C
XM_011529093.1:c.398+20T>C	XP_011527395.1:n.398+20T>C
XM_011529094.1:c.372+130T>C	XP_011527396.1:n.372+130T>C
XR_002958550.1:n.436+20T>C
XR_002958551.1:n.411+130T>C