Canonical Allele Identifier: CA373084942

Gene: MTAP

Linked Data

• dbSNP Id: rs772657363
• gnomAD v4: 9-21816750-G-A
• MyVariant Identifiers: chr9:g.21816749G>A (hg19) ; chr9:g.21816750G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21816750G>A , CM000671.2:g.21816750G>A	GRCh38
NC_000009.11:g.21816749G>A , CM000671.1:g.21816749G>A	GRCh37
NC_000009.10:g.21806749G>A	NCBI36
NG_032650.1:g.19115G>A
NG_032650.2:g.19115G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404796.3:c.157G>A	ENSP00000385916.2:p.Val53Ile
ENST00000644715.2:c.157G>A MANE Select	ENSP00000494373.1:p.Val53Ile
ENST00000380172.8:c.157G>A	ENSP00000369519.4:p.Val53Ile
ENST00000404796.2:c.157G>A	ENSP00000385916.2:p.Val53Ile
ENST00000419385.5:c.*29G>A	ENSP00000393507.1:n.*29G>A
ENST00000427788.2:n.543G>A
ENST00000460874.6:c.208G>A	ENSP00000461932.1:p.Val70Ile
ENST00000579422.5:n.545G>A
ENST00000580718.1:c.157G>A	ENSP00000464616.1:p.Val53Ile
ENST00000580900.5:c.157G>A	ENSP00000463424.1:p.Val53Ile
NM_002451.3:c.157G>A	NP_002442.2:p.Val53Ile
NM_002451.4:c.157G>A MANE Select	NP_002442.2:p.Val53Ile
NM_001396040.1:c.208G>A	NP_001382969.1:p.Val70Ile
NM_001396041.1:c.157G>A	NP_001382970.1:p.Val53Ile
NM_001396042.1:c.157G>A	NP_001382971.1:p.Val53Ile
NM_001396043.1:c.157G>A	NP_001382972.1:p.Val53Ile
NM_001396044.1:c.157G>A	NP_001382973.1:p.Val53Ile
NM_001396045.1:c.157G>A	NP_001382974.1:p.Val53Ile
NR_173242.1:n.270G>A