Canonical Allele Identifier: CA2173247663

Linked Data

dbSNP Id: rs2085645644

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599395T>C , CM000677.2:g.43599395T>C GRCh38
NC_000015.9:g.43891593T>C , CM000677.1:g.43891593T>C GRCh37
NC_000015.8:g.41678885T>C NCBI36
NG_011636.1:g.24406A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000441322.6:c.*122T>C (CKMT1B) MANE Select ENSP00000413255.2:n.*122T>C
ENST00000300283.10:c.*122T>C (CKMT1B) ENSP00000300283.6:n.*122T>C
ENST00000411560.1:n.4T>C (CKMT1B)
ENST00000437534.3:c.*1296T>C (CKMT1B) ENSP00000416717.1:n.*1296T>C
ENST00000441322.5:c.*122T>C (CKMT1B) ENSP00000413255.1:n.*122T>C
NM_020990.3:c.*122T>C (CKMT1B) NP_066270.1:n.*122T>C
XM_005254150.3:c.*122T>C (CKMT1B) XP_005254207.1:n.*122T>C
XM_011521194.1:c.*122T>C (CKMT1B) XP_011519496.1:n.*122T>C
XM_011521195.1:c.*122T>C (CKMT1B) XP_011519497.1:n.*122T>C
XM_011521196.1:c.*122T>C (CKMT1B) XP_011519498.1:n.*122T>C
XM_011521197.1:c.*122T>C (CKMT1B) XP_011519499.1:n.*122T>C
XM_011521198.1:c.*122T>C (CKMT1B) XP_011519500.1:n.*122T>C
XM_011521277.1:c.*277A>G (STRC) XP_011519579.1:n.*277A>G
XM_011521278.1:c.*277A>G (STRC) XP_011519580.1:n.*277A>G
XM_011521279.1:c.*277A>G (STRC) XP_011519581.1:n.*277A>G
NM_020990.4:c.*122T>C (CKMT1B) NP_066270.1:n.*122T>C
NR_135748.1:n.2831T>C (CKMT1B)
NR_135749.1:n.2811T>C (CKMT1B)
NR_135750.1:n.2782T>C (CKMT1B)
NR_135751.1:n.2671T>C (CKMT1B)
NR_135752.1:n.2438T>C (CKMT1B)
XM_005254150.4:c.*122T>C (CKMT1B) XP_005254207.1:n.*122T>C
XM_011521195.2:c.*122T>C (CKMT1B) XP_011519497.1:n.*122T>C
XM_011521197.2:c.*122T>C (CKMT1B) XP_011519499.1:n.*122T>C
XM_011521199.2:c.*122T>C (CKMT1B) XP_011519501.2:n.*122T>C
XM_017021902.1:c.*122T>C (CKMT1B) XP_016877391.1:n.*122T>C
NM_001375484.1:c.*122T>C (CKMT1B) MANE Select NP_001362413.1:n.*122T>C
NM_020990.5:c.*122T>C (CKMT1B) NP_066270.1:n.*122T>C
NR_135750.2:n.2782T>C (CKMT1B)