Canonical Allele Identifier: CA9909287

Gene: DPM1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50958523T>G , CM000682.2:g.50958523T>G	GRCh38
NC_000020.10:g.49575060T>G , CM000682.1:g.49575060T>G	GRCh37
NC_000020.9:g.49008467T>G	NCBI36
NG_008923.1:g.5001A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003859.3:c.1A>C MANE Select	NP_003850.1:p.Met1Leu
ENST00000371588.10:c.1A>C MANE Select	ENSP00000360644.5:p.Met1Leu
NM_001317034.1:c.1A>C	NP_001303963.1:p.Met1Leu
NM_001317035.1:c.1A>C	NP_001303964.1:p.Met1Leu
NM_001317036.1:c.1A>C	NP_001303965.1:p.Met1Leu
NM_003859.1:c.1A>C	NP_003850.1:p.Met1Leu
NM_003859.2:c.1A>C	NP_003850.1:p.Met1Leu
NR_133648.1:n.42A>C
NR_133648.2:n.10A>C
ENST00000371582.8:c.1A>C	ENSP00000360638.4:p.Met1Leu
ENST00000371584.9:c.1A>C	ENSP00000360640.5:p.Met1Leu
ENST00000371588.9:c.1A>C	ENSP00000360644.5:p.Met1Leu
ENST00000413082.1:c.1A>C	ENSP00000394921.1:p.Met1Leu
ENST00000466152.5:n.28A>C
ENST00000683048.1:c.1A>C	ENSP00000506986.1:p.Met1Leu
ENST00000683466.1:c.-155+218A>C	ENSP00000507404.1:n.-155+218A>C
ENST00000684628.1:n.10A>C
XM_011529093.1:c.1A>C	XP_011527395.1:p.Met1Leu
XM_011529094.1:c.1A>C	XP_011527396.1:p.Met1Leu
XR_002958550.1:n.39A>C
XR_002958551.1:n.40A>C