Canonical Allele Identifier: CA134118690
Community Standard Title: NM_001242957.3(MAK):c.718C>T (p.Gln240Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10802005G>A , CM000668.2:g.10802005G>A GRCh38
NC_000006.11:g.10802238G>A , CM000668.1:g.10802238G>A GRCh37
NC_000006.10:g.10910224G>A NCBI36
NG_030040.1:g.41551C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001242957.3:c.718C>T (MAK) MANE Select NP_001229886.1:p.Gln240Ter
ENST00000354489.7:c.718C>T (MAK) MANE Select ENSP00000346484.3:p.Gln240Ter
NM_001242385.1:c.718C>T (MAK) NP_001229314.1:p.Gln240Ter
NM_001242385.2:c.718C>T (MAK) NP_001229314.1:p.Gln240Ter
NM_001242957.1:c.718C>T (MAK) NP_001229886.1:p.Gln240Ter
NM_001242957.2:c.718C>T (MAK) NP_001229886.1:p.Gln240Ter
NM_001377262.1:c.616C>T (MAK) NP_001364191.1:p.Gln206Ter
NM_005906.4:c.718C>T (MAK) NP_005897.1:p.Gln240Ter
NM_005906.5:c.718C>T (MAK) NP_005897.1:p.Gln240Ter
NM_005906.6:c.718C>T (MAK) NP_005897.1:p.Gln240Ter
NR_134935.1:n.1000C>T (MAK)
NR_134935.2:n.984C>T (MAK)
NR_134936.1:n.1089C>T (MAK)
NR_134936.2:n.1145C>T (MAK)
ENST00000313243.6:c.718C>T (MAK) ENSP00000313021.2:p.Gln240Ter
ENST00000354489.6:c.718C>T (MAK) ENSP00000346484.3:p.Gln240Ter
ENST00000460341.5:c.*120+31801G>A (TMEM14B) ENSP00000417095.1:n.*120+31801G>A
ENST00000463100.5:c.*121-27002G>A (TMEM14B) ENSP00000419806.1:n.*121-27002G>A
ENST00000463448.5:c.*120+31801G>A (TMEM14B) ENSP00000419208.1:n.*120+31801G>A
ENST00000467229.1:c.285-27002G>A (TMEM14B)
ENST00000473166.5:c.*121-24559G>A (TMEM14B) ENSP00000417416.1:n.*121-24559G>A
ENST00000473807.5:c.*121-326G>A (TMEM14B) ENSP00000419156.1:n.*121-326G>A
ENST00000474039.5:c.718C>T (MAK) ENSP00000476067.1:p.Gln240Ter
ENST00000478732.1:c.265-326G>A (TMEM14B) ENSP00000418927.1:n.265-326G>A
ENST00000480294.1:c.100+52307G>A ENSP00000417929.1:n.100+52307G>A
ENST00000489137.1:n.129-24559G>A (TMEM14B)
ENST00000536370.5:c.718C>T (MAK) ENSP00000442221.2:p.Gln240Ter
ENST00000536370.6:c.718C>T (MAK) ENSP00000442221.2:p.Gln240Ter
ENST00000538030.2:c.718C>T (MAK) ENSP00000442250.1:p.Gln240Ter
ENST00000538030.3:c.718C>T (MAK) ENSP00000442250.1:p.Gln240Ter
ENST00000675026.1:c.718C>T (MAK) ENSP00000502542.1:p.Gln240Ter
ENST00000676116.1:c.616C>T (MAK) ENSP00000502045.1:p.Gln206Ter
XM_011514619.1:c.718C>T (MAK) XP_011512921.1:p.Gln240Ter
XM_011514619.2:c.718C>T (MAK) XP_011512921.1:p.Gln240Ter
XM_011514620.1:c.718C>T (MAK) XP_011512922.1:p.Gln240Ter
XM_011514620.2:c.718C>T (MAK) XP_011512922.1:p.Gln240Ter
XM_011514621.1:c.661C>T (MAK) XP_011512923.1:p.Gln221Ter
XM_011514621.2:c.661C>T (MAK) XP_011512923.1:p.Gln221Ter
XM_011514622.1:c.718C>T (MAK) XP_011512924.1:p.Gln240Ter
XM_011514622.3:c.718C>T (MAK) XP_011512924.1:p.Gln240Ter
XM_011514623.1:c.151C>T (MAK) XP_011512925.1:p.Gln51Ter
XM_011514624.1:c.-19-44C>T (MAK) XP_011512926.1:n.-19-44C>T
XM_011514624.2:c.-19-44C>T (MAK) XP_011512926.1:n.-19-44C>T
XM_017010863.2:c.718C>T (MAK) XP_016866352.1:p.Gln240Ter
XM_017010864.2:c.718C>T (MAK) XP_016866353.1:p.Gln240Ter
XM_017010865.1:c.661C>T (MAK) XP_016866354.1:p.Gln221Ter
XM_017010866.2:c.718C>T (MAK) XP_016866355.1:p.Gln240Ter
XM_024446443.1:c.151C>T (MAK) XP_024302211.1:p.Gln51Ter
XM_024446444.1:c.718C>T (MAK) XP_024302212.1:p.Gln240Ter
XR_001743419.2:n.988C>T (MAK)
XR_002956283.1:n.988C>T (MAK)
XR_926215.1:n.1050C>T (MAK)
XR_926215.3:n.988C>T (MAK)
XR_926216.1:n.1086C>T (MAK)
XR_926217.1:n.1050C>T (MAK)
XR_926219.1:n.1050C>T (MAK)
XR_926220.1:n.1050C>T (MAK)
XR_926220.3:n.988C>T (MAK)
XR_926221.1:n.1050C>T (MAK)