Canonical Allele Identifier: CA365227617
Community Standard Title: NM_022765.4(MICAL1):c.1717C>G (p.Leu573Val)
Gene: MICAL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.109448341G>C , CM000668.2:g.109448341G>C GRCh38
NC_000006.11:g.109769544G>C , CM000668.1:g.109769544G>C GRCh37
NC_000006.10:g.109876237G>C NCBI36
NG_042833.1:g.22628C>G

Transcript Alleles

HGVS Amino-acid Change
NM_022765.4:c.1717C>G MANE Select NP_073602.3:p.Leu573Val
ENST00000358807.8:c.1717C>G MANE Select ENSP00000351664.3:p.Leu573Val
NM_001159291.1:c.1459C>G NP_001152763.1:p.Leu487Val
NM_001159291.2:c.1459C>G NP_001152763.1:p.Leu487Val
NM_001286613.1:c.1774C>G NP_001273542.1:p.Leu592Val
NM_001286613.2:c.1774C>G NP_001273542.1:p.Leu592Val
NM_022765.3:c.1717C>G NP_073602.3:p.Leu573Val
ENST00000358577.7:c.1459C>G ENSP00000351385.3:p.Leu487Val
ENST00000358807.7:c.1717C>G ENSP00000351664.3:p.Leu573Val
ENST00000433205.1:c.401C>G
ENST00000456101.6:n.2551C>G
ENST00000465904.1:n.1727C>G
ENST00000630715.2:c.1774C>G ENSP00000486901.1:p.Leu592Val