Canonical Allele Identifier: CA8094158
Community Standard Title: NM_052999.4(CMTM1):c.175C>T (p.Arg59Cys)
Gene: CMTM1 HGNC NCBI
CKLF-CMTM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66566688C>T , CM000678.2:g.66566688C>T GRCh38
NC_000016.9:g.66600591C>T , CM000678.1:g.66600591C>T GRCh37
NC_000016.8:g.65158092C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_052999.4:c.175C>T (CMTM1) MANE Select NP_443725.3:p.Arg59Cys
ENST00000379500.7:c.175C>T (CMTM1) MANE Select ENSP00000368814.2:p.Arg59Cys
NM_001202509.1:c.79-10416C>T (CKLF-CMTM1) NP_001189438.1:n.79-10416C>T
NM_001202509.2:c.79-10416C>T (CKLF-CMTM1) NP_001189438.1:n.79-10416C>T
NM_001204098.1:c.174+3471C>T (CKLF-CMTM1) NP_001191027.1:n.174+3471C>T
NM_001204098.2:c.174+3471C>T (CKLF-CMTM1) NP_001191027.1:n.174+3471C>T
NM_001204099.1:c.237+8340C>T (CKLF-CMTM1) NP_001191028.1:n.237+8340C>T
NM_001204099.2:c.237+8340C>T (CKLF-CMTM1) NP_001191028.1:n.237+8340C>T
NM_052999.3:c.175C>T (CMTM1) NP_443725.3:p.Arg59Cys
NM_181268.2:c.175C>T (CMTM1) NP_851785.2:p.Arg59Cys
NM_181268.3:c.175C>T (CMTM1) NP_851785.2:p.Arg59Cys
NM_181269.2:c.81+94C>T (CMTM1) NP_851786.1:n.81+94C>T
NM_181269.3:c.81+94C>T (CMTM1) NP_851786.1:n.81+94C>T
NM_181270.2:c.81+94C>T (CMTM1) NP_851787.1:n.81+94C>T
NM_181270.3:c.81+94C>T (CMTM1) NP_851787.1:n.81+94C>T
NM_181271.2:c.99+76C>T (CMTM1) NP_851788.1:n.99+76C>T
NM_181271.3:c.99+76C>T (CMTM1) NP_851788.1:n.99+76C>T
NM_181272.2:c.81+94C>T (CMTM1) NP_851789.1:n.81+94C>T
NM_181272.3:c.81+94C>T (CMTM1) NP_851789.1:n.81+94C>T
NM_181283.2:c.81+94C>T (CMTM1) NP_851800.1:n.81+94C>T
NM_181283.3:c.81+94C>T (CMTM1) NP_851800.1:n.81+94C>T
NM_181296.2:c.81+94C>T (CMTM1) NP_851813.1:n.81+94C>T
NM_181296.3:c.81+94C>T (CMTM1) NP_851813.1:n.81+94C>T
ENST00000328020.10:c.175C>T (CMTM1) ENSP00000330061.6:p.Arg59Cys
ENST00000332695.11:c.99+76C>T (CMTM1) ENSP00000331428.7:n.99+76C>T
ENST00000333001.10:c.81+94C>T (CMTM1) ENSP00000331494.6:n.81+94C>T
ENST00000336328.10:c.81+94C>T (CMTM1) ENSP00000337119.6:n.81+94C>T
ENST00000379500.6:c.175C>T (CMTM1) ENSP00000368814.2:p.Arg59Cys
ENST00000457188.6:c.81+94C>T (CMTM1) ENSP00000405729.2:n.81+94C>T
ENST00000527729.5:c.79-10416C>T (CKLF-CMTM1) ENSP00000433998.1:n.79-10416C>T
ENST00000527845.1:c.*123-3248C>T (CKLF-CMTM1) ENSP00000435007.1:n.*123-3248C>T
ENST00000528324.5:c.81+94C>T (CMTM1) ENSP00000432398.1:n.81+94C>T
ENST00000528484.5:c.81+94C>T (CMTM1) ENSP00000437079.1:n.81+94C>T
ENST00000529386.5:c.81+94C>T (CMTM1) ENSP00000431303.1:n.81+94C>T
ENST00000529506.5:c.-33+94C>T (CMTM1) ENSP00000434434.2:n.-33+94C>T
ENST00000529718.1:c.90+3471C>T (CKLF-CMTM1) ENSP00000433503.1:n.90+3471C>T
ENST00000531885.5:c.81+94C>T (CMTM1) ENSP00000432687.1:n.81+94C>T
ENST00000533078.5:c.81+94C>T (CMTM1) ENSP00000432387.1:n.81+94C>T
ENST00000533666.5:c.81+94C>T (CMTM1) ENSP00000435020.1:n.81+94C>T
ENST00000533915.5:c.81+94C>T (CMTM1) ENSP00000435755.1:n.81+94C>T
ENST00000533953.5:c.175C>T (CMTM1) ENSP00000435786.1:p.Arg59Cys
ENST00000615332.5:c.174+3471C>T (CKLF-CMTM1) ENSP00000484781.1:n.174+3471C>T
ENST00000616804.5:c.237+8340C>T (CKLF-CMTM1) ENSP00000479319.1:n.237+8340C>T