Canonical Allele Identifier: CA586892519
Community Standard Title: NM_002451.4(MTAP):c.*3060A>G
Gene: MTAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21865074A>G , CM000671.2:g.21865074A>G GRCh38
NC_000009.11:g.21865073A>G , CM000671.1:g.21865073A>G GRCh37
NC_000009.10:g.21855073A>G NCBI36
NG_032650.1:g.67439A>G
NG_032650.2:g.67439A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002451.4:c.*3060A>G MANE Select NP_002442.2:n.*3060A>G
ENST00000644715.2:c.*3060A>G MANE Select ENSP00000494373.1:n.*3060A>G
NM_001396040.1:c.*3060A>G NP_001382969.1:n.*3060A>G
NM_001396041.1:c.813+5649A>G NP_001382970.1:n.813+5649A>G
NM_001396042.1:c.690+10204A>G NP_001382971.1:n.690+10204A>G
NM_001396043.1:c.813+5649A>G NP_001382972.1:n.813+5649A>G
NM_001396044.1:c.813+5649A>G NP_001382973.1:n.813+5649A>G
NM_001396045.1:c.690+10204A>G NP_001382974.1:n.690+10204A>G
NM_002451.3:c.*3060A>G NP_002442.2:n.*3060A>G
NR_173242.1:n.4042A>G
ENST00000380172.8:c.*3060A>G ENSP00000369519.4:n.*3060A>G
ENST00000404796.2:c.347+46872A>G ENSP00000385916.2:n.347+46872A>G
ENST00000404796.3:c.347+46872A>G ENSP00000385916.2:n.347+46872A>G
ENST00000577563.1:c.147+10204A>G ENSP00000462082.1:n.147+10204A>G
ENST00000580900.5:c.813+5649A>G ENSP00000463424.1:n.813+5649A>G