Canonical Allele Identifier: CA342734781
Gene: ASH1L HGNC NCBI
MIR555 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155346442C>A , CM000663.2:g.155346442C>A GRCh38
NC_000001.10:g.155316233C>A , CM000663.1:g.155316233C>A GRCh37
NC_000001.9:g.153582857C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_018489.3:c.7831G>T (ASH1L) MANE Select NP_060959.2:p.Val2611Leu
ENST00000392403.8:c.7831G>T (ASH1L) MANE Select ENSP00000376204.3:p.Val2611Leu
NM_001366177.1:c.7846G>T (ASH1L) NP_001353106.1:p.Val2616Leu
NM_001366177.2:c.7846G>T (ASH1L) NP_001353106.1:p.Val2616Leu
NM_018489.2:c.7831G>T (ASH1L) NP_060959.2:p.Val2611Leu
NR_030282.1:n.4G>T (MIR555)
ENST00000368346.7:c.7846G>T (ASH1L) ENSP00000357330.3:p.Val2616Leu
ENST00000392403.7:c.7831G>T (ASH1L) ENSP00000376204.3:p.Val2611Leu
ENST00000492987.2:c.302G>T (ASH1L)
ENST00000676814.1:c.*2848G>T (ASH1L) ENSP00000504300.1:n.*2848G>T
ENST00000677042.1:c.*2754G>T (ASH1L) ENSP00000503440.1:n.*2754G>T
ENST00000677213.1:c.7831G>T (ASH1L) ENSP00000503315.1:p.Val2611Leu
ENST00000677825.1:c.7828G>T (ASH1L) ENSP00000503792.1:p.Val2610Leu
ENST00000678117.1:c.7831G>T (ASH1L) ENSP00000504629.1:p.Val2611Leu
ENST00000678699.1:c.*2696G>T (ASH1L) ENSP00000503202.1:n.*2696G>T
ENST00000679097.1:c.7831G>T (ASH1L) ENSP00000503265.1:p.Val2611Leu
ENST00000679133.1:c.7831G>T (ASH1L) ENSP00000504026.1:p.Val2611Leu
ENST00000679333.1:c.7651G>T (ASH1L) ENSP00000504598.1:p.Val2551Leu
XM_006711450.2:c.7831G>T (ASH1L) XP_006711513.1:p.Val2611Leu
XM_006711450.3:c.7831G>T (ASH1L) XP_006711513.1:p.Val2611Leu
XM_006711451.2:c.7831G>T (ASH1L) XP_006711514.1:p.Val2611Leu
XM_006711451.3:c.7831G>T (ASH1L) XP_006711514.1:p.Val2611Leu
XM_006711452.2:c.7651G>T (ASH1L) XP_006711515.1:p.Val2551Leu
XM_006711452.4:c.7651G>T (ASH1L) XP_006711515.1:p.Val2551Leu
XM_011509770.1:c.2671G>T (ASH1L) XP_011508072.1:p.Val891Leu
XM_011509770.3:c.2671G>T (ASH1L) XP_011508072.1:p.Val891Leu
XM_017001784.1:c.7831G>T (ASH1L) XP_016857273.1:p.Val2611Leu
XM_017001785.1:c.7831G>T (ASH1L) XP_016857274.1:p.Val2611Leu
XM_017001786.2:c.7831G>T (ASH1L) XP_016857275.1:p.Val2611Leu
XM_017001788.1:c.2671G>T (ASH1L) XP_016857277.1:p.Val891Leu