Canonical Allele Identifier: CA5011750

Gene: MTAP

Linked Data

• dbSNP Id: rs779425933
• ExAC: 9:21816738 A / G
• gnomAD v2: 9-21816738-A-G
• gnomAD v4: 9-21816739-A-G
• MyVariant Identifiers: chr9:g.21816738A>G (hg19) ; chr9:g.21816739A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21816739A>G , CM000671.2:g.21816739A>G	GRCh38
NC_000009.11:g.21816738A>G , CM000671.1:g.21816738A>G	GRCh37
NC_000009.10:g.21806738A>G	NCBI36
NG_032650.1:g.19104A>G
NG_032650.2:g.19104A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404796.3:c.146A>G	ENSP00000385916.2:p.Lys49Arg
ENST00000644715.2:c.146A>G MANE Select	ENSP00000494373.1:p.Lys49Arg
ENST00000380172.8:c.146A>G	ENSP00000369519.4:p.Lys49Arg
ENST00000404796.2:c.146A>G	ENSP00000385916.2:p.Lys49Arg
ENST00000419385.5:c.*18A>G	ENSP00000393507.1:n.*18A>G
ENST00000427788.2:n.532A>G
ENST00000460874.6:c.197A>G	ENSP00000461932.1:p.Lys66Arg
ENST00000579422.5:n.534A>G
ENST00000580718.1:c.146A>G	ENSP00000464616.1:p.Lys49Arg
ENST00000580900.5:c.146A>G	ENSP00000463424.1:p.Lys49Arg
NM_002451.3:c.146A>G	NP_002442.2:p.Lys49Arg
NM_002451.4:c.146A>G MANE Select	NP_002442.2:p.Lys49Arg
NM_001396040.1:c.197A>G	NP_001382969.1:p.Lys66Arg
NM_001396041.1:c.146A>G	NP_001382970.1:p.Lys49Arg
NM_001396042.1:c.146A>G	NP_001382971.1:p.Lys49Arg
NM_001396043.1:c.146A>G	NP_001382972.1:p.Lys49Arg
NM_001396044.1:c.146A>G	NP_001382973.1:p.Lys49Arg
NM_001396045.1:c.146A>G	NP_001382974.1:p.Lys49Arg
NR_173242.1:n.259A>G