Canonical Allele Identifier: CA373084902

Gene: MTAP

Linked Data

• dbSNP Id: rs1421444024
• gnomAD v2: 9-21816732-T-C
• gnomAD v3: 9-21816733-T-C
• gnomAD v4: 9-21816733-T-C
• MyVariant Identifiers: chr9:g.21816732T>C (hg19) ; chr9:g.21816733T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21816733T>C , CM000671.2:g.21816733T>C	GRCh38
NC_000009.11:g.21816732T>C , CM000671.1:g.21816732T>C	GRCh37
NC_000009.10:g.21806732T>C	NCBI36
NG_032650.1:g.19098T>C
NG_032650.2:g.19098T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404796.3:c.140T>C	ENSP00000385916.2:p.Leu47Ser
ENST00000644715.2:c.140T>C MANE Select	ENSP00000494373.1:p.Leu47Ser
ENST00000380172.8:c.140T>C	ENSP00000369519.4:p.Leu47Ser
ENST00000404796.2:c.140T>C	ENSP00000385916.2:p.Leu47Ser
ENST00000419385.5:c.*12T>C	ENSP00000393507.1:n.*12T>C
ENST00000427788.2:n.526T>C
ENST00000460874.6:c.191T>C	ENSP00000461932.1:p.Leu64Ser
ENST00000579422.5:n.528T>C
ENST00000580718.1:c.140T>C	ENSP00000464616.1:p.Leu47Ser
ENST00000580900.5:c.140T>C	ENSP00000463424.1:p.Leu47Ser
NM_002451.3:c.140T>C	NP_002442.2:p.Leu47Ser
NM_002451.4:c.140T>C MANE Select	NP_002442.2:p.Leu47Ser
NM_001396040.1:c.191T>C	NP_001382969.1:p.Leu64Ser
NM_001396041.1:c.140T>C	NP_001382970.1:p.Leu47Ser
NM_001396042.1:c.140T>C	NP_001382971.1:p.Leu47Ser
NM_001396043.1:c.140T>C	NP_001382972.1:p.Leu47Ser
NM_001396044.1:c.140T>C	NP_001382973.1:p.Leu47Ser
NM_001396045.1:c.140T>C	NP_001382974.1:p.Leu47Ser
NR_173242.1:n.253T>C