Canonical Allele Identifier: CA9909247

Gene: DPM1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50958462C>T , CM000682.2:g.50958462C>T	GRCh38
NC_000020.10:g.49574999C>T , CM000682.1:g.49574999C>T	GRCh37
NC_000020.9:g.49008406C>T	NCBI36
NG_008923.1:g.5062G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003859.3:c.62G>A MANE Select	NP_003850.1:p.Ser21Asn
ENST00000371588.10:c.62G>A MANE Select	ENSP00000360644.5:p.Ser21Asn
NM_001317034.1:c.62G>A	NP_001303963.1:p.Ser21Asn
NM_001317035.1:c.62G>A	NP_001303964.1:p.Ser21Asn
NM_001317036.1:c.62G>A	NP_001303965.1:p.Ser21Asn
NM_003859.1:c.62G>A	NP_003850.1:p.Ser21Asn
NM_003859.2:c.62G>A	NP_003850.1:p.Ser21Asn
NR_133648.1:n.103G>A
NR_133648.2:n.71G>A
ENST00000371582.8:c.62G>A	ENSP00000360638.4:p.Ser21Asn
ENST00000371584.8:c.60G>A
ENST00000371584.9:c.62G>A	ENSP00000360640.5:p.Ser21Asn
ENST00000371588.9:c.62G>A	ENSP00000360644.5:p.Ser21Asn
ENST00000413082.1:c.62G>A	ENSP00000394921.1:p.Ser21Asn
ENST00000466152.5:n.89G>A
ENST00000682754.1:n.60G>A
ENST00000683048.1:c.62G>A	ENSP00000506986.1:p.Ser21Asn
ENST00000683466.1:c.-155+279G>A	ENSP00000507404.1:n.-155+279G>A
ENST00000684628.1:n.71G>A
XM_011529093.1:c.62G>A	XP_011527395.1:p.Ser21Asn
XM_011529094.1:c.62G>A	XP_011527396.1:p.Ser21Asn
XR_002958550.1:n.100G>A
XR_002958551.1:n.101G>A