Canonical Allele Identifier: CA3540136
Community Standard Title: NM_001308173.3(CCNJL):c.799A>G (p.Met267Val)
Gene: CCNJL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.160253743T>C , CM000667.2:g.160253743T>C GRCh38
NC_000005.9:g.159680750T>C , CM000667.1:g.159680750T>C GRCh37
NC_000005.8:g.159613328T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001308173.3:c.799A>G MANE Select NP_001295102.1:p.Met267Val
ENST00000257536.13:c.799A>G MANE Select ENSP00000257536.7:p.Met267Val
NM_001308173.1:c.799A>G NP_001295102.1:p.Met267Val
NM_001308173.2:c.799A>G NP_001295102.1:p.Met267Val
NM_024565.5:c.943A>G NP_078841.3:p.Met315Val
NM_024565.6:c.943A>G NP_078841.3:p.Met315Val
NM_024565.7:c.943A>G NP_078841.3:p.Met315Val
NM_024565.8:c.943A>G NP_078841.3:p.Met315Val
NR_131769.1:n.1294A>G
NR_131769.2:n.1272A>G
ENST00000257536.11:c.799A>G ENSP00000257536.7:p.Met267Val
ENST00000377503.6:n.1352A>G
ENST00000393977.7:c.943A>G ENSP00000377547.3:p.Met315Val
ENST00000541762.5:c.886A>G ENSP00000446367.2:p.Met296Val
ENST00000643539.1:c.*551A>G ENSP00000496436.1:n.*551A>G
ENST00000643836.1:c.*1077A>G ENSP00000496026.1:n.*1077A>G
ENST00000644313.1:c.799A>G ENSP00000493837.1:p.Met267Val
ENST00000644926.1:c.*2083A>G ENSP00000496735.1:n.*2083A>G
XM_006714917.2:c.934A>G XP_006714980.1:p.Met312Val
XM_006714917.4:c.934A>G XP_006714980.1:p.Met312Val
XM_006714918.2:c.733A>G XP_006714981.1:p.Met245Val
XM_011534646.1:c.733A>G XP_011532948.1:p.Met245Val
XM_011534646.3:c.733A>G XP_011532948.1:p.Met245Val
XM_011534647.1:c.625A>G XP_011532949.1:p.Met209Val
XM_011534647.3:c.625A>G XP_011532949.1:p.Met209Val
XM_017009846.2:c.1249A>G XP_016865335.1:p.Met417Val
XM_017009847.1:c.802A>G XP_016865336.1:p.Met268Val
XM_017009848.1:c.589A>G XP_016865337.1:p.Met197Val
XR_427810.2:n.1544A>G
XR_427810.4:n.1528A>G
XR_427811.2:n.1287A>G
XR_427811.3:n.1287A>G