Canonical Allele Identifier: CA407949195
Community Standard Title: NM_198055.2(MZF1):c.1484C>T (p.Ala495Val)
Gene: MZF1 HGNC NCBI
MZF1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.58562793G>A , CM000681.2:g.58562793G>A GRCh38
NC_000019.9:g.59074160G>A , CM000681.1:g.59074160G>A GRCh37
NC_000019.8:g.63765972G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_198055.2:c.1484C>T (MZF1) MANE Select NP_932172.1:p.Ala495Val
ENST00000215057.7:c.1484C>T (MZF1) MANE Select ENSP00000215057.1:p.Ala495Val
NM_001267033.1:c.*367C>T (MZF1) NP_001253962.1:n.*367C>T
NM_001267033.2:c.*367C>T (MZF1) NP_001253962.1:n.*367C>T
NM_003422.2:c.1484C>T (MZF1) NP_003413.2:p.Ala495Val
NM_003422.3:c.1484C>T (MZF1) NP_003413.2:p.Ala495Val
NM_198055.1:c.1484C>T (MZF1) NP_932172.1:p.Ala495Val
NR_027334.2:n.224+3384G>A (MZF1-AS1)
ENST00000215057.6:c.1484C>T (MZF1) ENSP00000215057.1:p.Ala495Val
ENST00000594234.5:c.*367C>T (MZF1) ENSP00000469378.1:n.*367C>T
ENST00000599369.5:c.1484C>T (MZF1) ENSP00000469493.1:p.Ala495Val
ENST00000600004.1:n.1821C>T (MZF1)
XM_005259204.2:c.1607C>T (MZF1) XP_005259261.1:p.Ala536Val
XM_005259204.3:c.1607C>T (MZF1) XP_005259261.1:p.Ala536Val
XM_006723359.2:c.1484C>T (MZF1) XP_006723422.1:p.Ala495Val
XM_011527264.1:c.1574C>T (MZF1) XP_011525566.1:p.Ala525Val
XM_011527264.3:c.1574C>T (MZF1) XP_011525566.1:p.Ala525Val
XM_011527265.1:c.1484C>T (MZF1) XP_011525567.1:p.Ala495Val
XM_011527266.1:c.1439C>T (MZF1) XP_011525568.1:p.Ala480Val
XM_017027206.1:c.632C>T (MZF1) XP_016882695.1:p.Ala211Val
XM_024451689.1:c.1607C>T (MZF1) XP_024307457.1:p.Ala536Val