Canonical Allele Identifier: CA3607553
Community Standard Title: NM_002406.4(MGAT1):c.1154G>A (p.Arg385Gln)
Gene: MGAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.180791818C>T , CM000667.2:g.180791818C>T GRCh38
NC_000005.9:g.180218818C>T , CM000667.1:g.180218818C>T GRCh37
NC_000005.8:g.180151424C>T NCBI36
NG_032928.1:g.23320G>A
NG_032928.2:g.28835G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002406.4:c.1154G>A MANE Select NP_002397.2:p.Arg385Gln
ENST00000307826.5:c.1154G>A MANE Select ENSP00000311888.4:p.Arg385Gln
NM_001114617.1:c.1154G>A NP_001108089.1:p.Arg385Gln
NM_001114617.2:c.1154G>A NP_001108089.1:p.Arg385Gln
NM_001114618.1:c.1154G>A NP_001108090.1:p.Arg385Gln
NM_001114619.1:c.1154G>A NP_001108091.1:p.Arg385Gln
NM_001114620.1:c.1154G>A NP_001108092.1:p.Arg385Gln
NM_001364377.1:c.1154G>A NP_001351306.1:p.Arg385Gln
NM_001364377.2:c.1154G>A NP_001351306.1:p.Arg385Gln
NM_001364379.1:c.1154G>A NP_001351308.1:p.Arg385Gln
NM_001364379.2:c.1154G>A NP_001351308.1:p.Arg385Gln
NM_001364380.1:c.1154G>A NP_001351309.1:p.Arg385Gln
NM_001364380.2:c.1154G>A NP_001351309.1:p.Arg385Gln
NM_001364381.1:c.1154G>A NP_001351310.1:p.Arg385Gln
NM_001364381.2:c.1154G>A NP_001351310.1:p.Arg385Gln
NM_001364382.1:c.1154G>A NP_001351311.1:p.Arg385Gln
NM_001364382.2:c.1154G>A NP_001351311.1:p.Arg385Gln
NM_001364383.1:c.1154G>A NP_001351312.1:p.Arg385Gln
NM_001364383.2:c.1154G>A NP_001351312.1:p.Arg385Gln
NM_001364384.1:c.1154G>A NP_001351313.1:p.Arg385Gln
NM_001364384.2:c.1154G>A NP_001351313.1:p.Arg385Gln
NM_001364385.1:c.1154G>A NP_001351314.1:p.Arg385Gln
NM_001364385.2:c.1154G>A NP_001351314.1:p.Arg385Gln
NM_001364386.1:c.1154G>A NP_001351315.1:p.Arg385Gln
NM_001364386.2:c.1154G>A NP_001351315.1:p.Arg385Gln
NM_001364387.1:c.1154G>A NP_001351316.1:p.Arg385Gln
NM_001364387.2:c.1154G>A NP_001351316.1:p.Arg385Gln
NM_001364388.1:c.1154G>A NP_001351317.1:p.Arg385Gln
NM_001364388.2:c.1154G>A NP_001351317.1:p.Arg385Gln
NM_001364389.1:c.1154G>A NP_001351318.1:p.Arg385Gln
NM_001364389.2:c.1154G>A NP_001351318.1:p.Arg385Gln
NM_001364390.1:c.1154G>A NP_001351319.1:p.Arg385Gln
NM_001364390.2:c.1154G>A NP_001351319.1:p.Arg385Gln
NM_001364391.1:c.1154G>A NP_001351320.1:p.Arg385Gln
NM_001364391.2:c.1154G>A NP_001351320.1:p.Arg385Gln
NM_001364392.1:c.1154G>A NP_001351321.1:p.Arg385Gln
NM_001364392.2:c.1154G>A NP_001351321.1:p.Arg385Gln
NM_001364393.1:c.1154G>A NP_001351322.1:p.Arg385Gln
NM_001364393.2:c.1154G>A NP_001351322.1:p.Arg385Gln
NM_001364394.1:c.1154G>A NP_001351323.1:p.Arg385Gln
NM_001364394.2:c.1154G>A NP_001351323.1:p.Arg385Gln
NM_001364395.1:c.1154G>A NP_001351324.1:p.Arg385Gln
NM_001364395.2:c.1154G>A NP_001351324.1:p.Arg385Gln
NM_002406.3:c.1154G>A NP_002397.2:p.Arg385Gln
ENST00000307826.4:c.1154G>A ENSP00000311888.4:p.Arg385Gln
ENST00000333055.8:c.1154G>A ENSP00000332073.3:p.Arg385Gln
ENST00000393340.7:c.1154G>A ENSP00000377010.3:p.Arg385Gln
ENST00000427865.2:c.1154G>A ENSP00000402838.2:p.Arg385Gln
ENST00000446023.6:c.1154G>A ENSP00000404718.2:p.Arg385Gln
XM_005265915.1:c.1154G>A XP_005265972.1:p.Arg385Gln
XM_005265916.1:c.1154G>A XP_005265973.1:p.Arg385Gln
XM_006714866.1:c.1154G>A XP_006714929.1:p.Arg385Gln
XM_011534559.1:c.1154G>A XP_011532861.1:p.Arg385Gln
XM_011534560.1:c.1154G>A XP_011532862.1:p.Arg385Gln
XM_011534561.1:c.1154G>A XP_011532863.1:p.Arg385Gln
XM_011534562.1:c.1154G>A XP_011532864.1:p.Arg385Gln
XM_011534563.1:c.1154G>A XP_011532865.1:p.Arg385Gln