Canonical Allele Identifier: CA396195219
Community Standard Title: NM_052999.4(CMTM1):c.375G>C (p.Arg125Ser)
Gene: CMTM1 HGNC NCBI
CKLF-CMTM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66566888G>C , CM000678.2:g.66566888G>C GRCh38
NC_000016.9:g.66600791G>C , CM000678.1:g.66600791G>C GRCh37
NC_000016.8:g.65158292G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_052999.4:c.375G>C (CMTM1) MANE Select NP_443725.3:p.Arg125Ser
ENST00000379500.7:c.375G>C (CMTM1) MANE Select ENSP00000368814.2:p.Arg125Ser
NM_001202509.1:c.79-10216G>C (CKLF-CMTM1) NP_001189438.1:n.79-10216G>C
NM_001202509.2:c.79-10216G>C (CKLF-CMTM1) NP_001189438.1:n.79-10216G>C
NM_001204098.1:c.174+3671G>C (CKLF-CMTM1) NP_001191027.1:n.174+3671G>C
NM_001204098.2:c.174+3671G>C (CKLF-CMTM1) NP_001191027.1:n.174+3671G>C
NM_001204099.1:c.237+8540G>C (CKLF-CMTM1) NP_001191028.1:n.237+8540G>C
NM_001204099.2:c.237+8540G>C (CKLF-CMTM1) NP_001191028.1:n.237+8540G>C
NM_052999.3:c.375G>C (CMTM1) NP_443725.3:p.Arg125Ser
NM_181268.2:c.375G>C (CMTM1) NP_851785.2:p.Arg125Ser
NM_181268.3:c.375G>C (CMTM1) NP_851785.2:p.Arg125Ser
NM_181269.2:c.81+294G>C (CMTM1) NP_851786.1:n.81+294G>C
NM_181269.3:c.81+294G>C (CMTM1) NP_851786.1:n.81+294G>C
NM_181270.2:c.81+294G>C (CMTM1) NP_851787.1:n.81+294G>C
NM_181270.3:c.81+294G>C (CMTM1) NP_851787.1:n.81+294G>C
NM_181271.2:c.99+276G>C (CMTM1) NP_851788.1:n.99+276G>C
NM_181271.3:c.99+276G>C (CMTM1) NP_851788.1:n.99+276G>C
NM_181272.2:c.81+294G>C (CMTM1) NP_851789.1:n.81+294G>C
NM_181272.3:c.81+294G>C (CMTM1) NP_851789.1:n.81+294G>C
NM_181283.2:c.81+294G>C (CMTM1) NP_851800.1:n.81+294G>C
NM_181283.3:c.81+294G>C (CMTM1) NP_851800.1:n.81+294G>C
NM_181296.2:c.81+294G>C (CMTM1) NP_851813.1:n.81+294G>C
NM_181296.3:c.81+294G>C (CMTM1) NP_851813.1:n.81+294G>C
ENST00000328020.10:c.375G>C (CMTM1) ENSP00000330061.6:p.Arg125Ser
ENST00000332695.11:c.99+276G>C (CMTM1) ENSP00000331428.7:n.99+276G>C
ENST00000333001.10:c.81+294G>C (CMTM1) ENSP00000331494.6:n.81+294G>C
ENST00000336328.10:c.81+294G>C (CMTM1) ENSP00000337119.6:n.81+294G>C
ENST00000379500.6:c.375G>C (CMTM1) ENSP00000368814.2:p.Arg125Ser
ENST00000457188.6:c.81+294G>C (CMTM1) ENSP00000405729.2:n.81+294G>C
ENST00000465057.5:c.142G>C (CMTM1)
ENST00000479381.5:c.142G>C (CMTM1)
ENST00000527729.5:c.79-10216G>C (CKLF-CMTM1) ENSP00000433998.1:n.79-10216G>C
ENST00000527845.1:c.*123-3048G>C (CKLF-CMTM1) ENSP00000435007.1:n.*123-3048G>C
ENST00000528324.5:c.81+294G>C (CMTM1) ENSP00000432398.1:n.81+294G>C
ENST00000528441.1:c.142G>C (CMTM1)
ENST00000528484.5:c.81+294G>C (CMTM1) ENSP00000437079.1:n.81+294G>C
ENST00000529386.5:c.81+294G>C (CMTM1) ENSP00000431303.1:n.81+294G>C
ENST00000529506.5:c.-33+294G>C (CMTM1) ENSP00000434434.2:n.-33+294G>C
ENST00000529718.1:c.90+3671G>C (CKLF-CMTM1) ENSP00000433503.1:n.90+3671G>C
ENST00000530141.5:c.142G>C (CMTM1)
ENST00000531885.5:c.81+294G>C (CMTM1) ENSP00000432687.1:n.81+294G>C
ENST00000533078.5:c.81+294G>C (CMTM1) ENSP00000432387.1:n.81+294G>C
ENST00000533666.5:c.81+294G>C (CMTM1) ENSP00000435020.1:n.81+294G>C
ENST00000533915.5:c.81+294G>C (CMTM1) ENSP00000435755.1:n.81+294G>C
ENST00000533953.5:c.375G>C (CMTM1) ENSP00000435786.1:p.Arg125Ser
ENST00000534143.5:c.142G>C (CMTM1)
ENST00000615332.5:c.174+3671G>C (CKLF-CMTM1) ENSP00000484781.1:n.174+3671G>C
ENST00000616804.5:c.237+8540G>C (CKLF-CMTM1) ENSP00000479319.1:n.237+8540G>C