Canonical Allele Identifier: CA1736991384

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116672385C>A , CM000669.2:g.116672385C>A GRCh38
NC_000007.13:g.116312439C>A , CM000669.1:g.116312439C>A GRCh37
NC_000007.12:g.116099675C>A NCBI36
NG_008996.1:g.4981C>A , LRG_662:g.4981C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000422097.2:c.-207C>A (MET) ENSP00000398776.2:n.-207C>A
ENST00000436117.3:c.-207C>A (MET) ENSP00000410980.2:n.-207C>A
ENST00000318493.11:c.-207C>A (MET) ENSP00000317272.6:n.-207C>A
ENST00000397752.8:c.-207C>A (MET) MANE Select ENSP00000380860.3:n.-207C>A
NM_001324402.1:c.-283C>A (MET) NP_001311331.1:n.-283C>A
NM_001127500.3:c.-207C>A (MET) NP_001120972.1:n.-207C>A
NM_000245.4:c.-207C>A (MET) MANE Select NP_000236.2:n.-207C>A
NM_001324401.2:c.-207C>A (MET) NP_001311330.1:n.-207C>A
NM_001324402.2:c.-283C>A (MET) NP_001311331.1:n.-283C>A
NR_165032.1:n.88-8344G>T (COMETT)
NR_165033.1:n.88-8344G>T (COMETT)
NM_001324401.3:c.-207C>A (MET) NP_001311330.1:n.-207C>A