Canonical Allele Identifier: CA2487084
Community Standard Title: NM_007114.3(TMF1):c.3235A>G (p.Met1079Val)
Gene: TMF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69023224T>C , CM000665.2:g.69023224T>C GRCh38
NC_000003.11:g.69072375T>C , CM000665.1:g.69072375T>C GRCh37
NC_000003.10:g.69155065T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_007114.3:c.3235A>G MANE Select NP_009045.2:p.Met1079Val
ENST00000398559.7:c.3235A>G MANE Select ENSP00000381567.2:p.Met1079Val
NM_001363879.1:c.3244A>G NP_001350808.1:p.Met1082Val
NM_007114.2:c.3235A>G NP_009045.2:p.Met1079Val
ENST00000398559.6:c.3235A>G ENSP00000381567.2:p.Met1079Val
ENST00000488010.5:c.*720A>G ENSP00000419330.1:n.*720A>G
ENST00000543976.2:c.3232A>G ENSP00000438706.2:p.Met1078Val
ENST00000646304.1:c.2911A>G ENSP00000496378.1:p.Met971Val
ENST00000646708.1:c.3244A>G ENSP00000494067.1:p.Met1082Val
XM_011534056.1:c.3244A>G XP_011532358.1:p.Met1082Val