Canonical Allele Identifier: CA4697314
Gene: HMBOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.28970426G>T , CM000670.2:g.28970426G>T GRCh38
NC_000008.10:g.28827943G>T , CM000670.1:g.28827943G>T GRCh37
NC_000008.9:g.28883862G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000287701.15:c.407G>T MANE Select ENSP00000287701.10:p.Arg136Leu
ENST00000287701.14:c.407G>T ENSP00000287701.10:p.Arg136Leu
ENST00000355231.9:c.407G>T ENSP00000475196.1:p.Arg136Leu
ENST00000397358.7:c.407G>T ENSP00000380516.3:p.Arg136Leu
ENST00000519047.5:c.407G>T ENSP00000430059.1:p.Arg136Leu
ENST00000521516.5:c.407G>T ENSP00000430238.1:p.Arg136Leu
ENST00000523613.5:c.407G>T ENSP00000452827.1:p.Arg136Leu
ENST00000524238.3:c.407G>T ENSP00000430110.1:p.Arg136Leu
ENST00000558662.5:c.407G>T ENSP00000453211.1:p.Arg136Leu
ENST00000560269.1:n.560G>T
ENST00000560357.5:n.733G>T
ENST00000560599.5:c.407G>T ENSP00000453185.1:p.Arg136Leu
NM_001135726.1:c.407G>T NP_001129198.1:p.Arg136Leu
NM_024567.3:c.407G>T NP_078843.2:p.Arg136Leu
XM_005273635.1:c.407G>T XP_005273692.1:p.Arg136Leu
XM_005273636.1:c.407G>T XP_005273693.1:p.Arg136Leu
XM_005273637.1:c.407G>T XP_005273694.1:p.Arg136Leu
XM_005273638.1:c.407G>T XP_005273695.1:p.Arg136Leu
XM_005273639.1:c.407G>T XP_005273696.1:p.Arg136Leu
XM_005273641.3:c.407G>T XP_005273698.1:p.Arg136Leu
XM_006716396.1:c.407G>T XP_006716459.1:p.Arg136Leu
XM_006716398.1:c.407G>T XP_006716461.1:p.Arg136Leu
XM_011544641.1:c.407G>T XP_011542943.1:p.Arg136Leu
XM_011544642.1:c.407G>T XP_011542944.1:p.Arg136Leu
XR_949473.1:n.749G>T
NM_001135726.2:c.407G>T NP_001129198.1:p.Arg136Leu
NM_001324382.1:c.407G>T NP_001311311.1:p.Arg136Leu
NM_001324383.1:c.407G>T NP_001311312.1:p.Arg136Leu
NM_001324384.1:c.407G>T NP_001311313.1:p.Arg136Leu
NM_001324385.1:c.407G>T NP_001311314.1:p.Arg136Leu
NM_001324386.1:c.407G>T NP_001311315.1:p.Arg136Leu
NM_001324387.1:c.407G>T NP_001311316.1:p.Arg136Leu
NM_001324388.1:c.407G>T NP_001311317.1:p.Arg136Leu
NM_001324389.1:c.407G>T NP_001311318.1:p.Arg136Leu
NM_001324390.1:c.407G>T NP_001311319.1:p.Arg136Leu
NM_001324391.1:c.407G>T NP_001311320.1:p.Arg136Leu
NM_001324392.1:c.407G>T NP_001311321.1:p.Arg136Leu
NM_001324393.1:c.407G>T NP_001311322.1:p.Arg136Leu
NM_001324394.1:c.407G>T NP_001311323.1:p.Arg136Leu
NM_001324395.1:c.407G>T NP_001311324.1:p.Arg136Leu
NM_001330498.1:c.407G>T NP_001317427.1:p.Arg136Leu
NM_024567.4:c.407G>T NP_078843.2:p.Arg136Leu
NR_136757.1:n.773G>T
NR_136758.1:n.773G>T
XM_005273641.5:c.407G>T XP_005273698.1:p.Arg136Leu
XM_006716398.2:c.407G>T XP_006716461.1:p.Arg136Leu
XM_011544642.2:c.407G>T XP_011542944.1:p.Arg136Leu
XM_017013823.2:c.407G>T XP_016869312.1:p.Arg136Leu
XM_017013824.2:c.407G>T XP_016869313.1:p.Arg136Leu
XM_017013825.1:c.407G>T XP_016869314.1:p.Arg136Leu
XM_024447269.1:c.407G>T XP_024303037.1:p.Arg136Leu
XR_001745588.1:n.749G>T
XR_001745589.1:n.781G>T
XR_001745590.2:n.680G>T
XR_001745591.1:n.749G>T
XR_001745592.2:n.680G>T
XR_001745593.1:n.749G>T
XR_001745594.1:n.749G>T
XR_001745595.1:n.749G>T
NM_001135726.3:c.407G>T MANE Select NP_001129198.1:p.Arg136Leu
NM_001324382.2:c.407G>T NP_001311311.1:p.Arg136Leu
NM_001324383.2:c.407G>T NP_001311312.1:p.Arg136Leu
NM_001324385.2:c.407G>T NP_001311314.1:p.Arg136Leu
NM_001324386.2:c.407G>T NP_001311315.1:p.Arg136Leu
NM_001324387.2:c.407G>T NP_001311316.1:p.Arg136Leu
NM_001324388.2:c.407G>T NP_001311317.1:p.Arg136Leu
NM_001324389.2:c.407G>T NP_001311318.1:p.Arg136Leu
NM_001324391.2:c.407G>T NP_001311320.1:p.Arg136Leu
NM_001324393.2:c.407G>T NP_001311322.1:p.Arg136Leu
NM_001324394.2:c.407G>T NP_001311323.1:p.Arg136Leu
NM_001324395.2:c.407G>T NP_001311324.1:p.Arg136Leu
NM_001330498.2:c.407G>T NP_001317427.1:p.Arg136Leu
NR_136757.2:n.748G>T
NR_136758.2:n.748G>T