Canonical Allele Identifier: CA4960989

Gene: KANK1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.738477G>C , CM000671.2:g.738477G>C	GRCh38
NC_000009.11:g.738477G>C , CM000671.1:g.738477G>C	GRCh37
NC_000009.10:g.728477G>C	NCBI36
NG_016331.2:g.273184G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015158.5:c.3526G>C MANE Select	NP_055973.2:p.Glu1176Gln
ENST00000382297.7:c.3526G>C MANE Select	ENSP00000371734.2:p.Glu1176Gln
NM_001256876.1:c.3526G>C	NP_001243805.1:p.Glu1176Gln
NM_001256876.2:c.3526G>C	NP_001243805.1:p.Glu1176Gln
NM_001256876.3:c.3526G>C	NP_001243805.1:p.Glu1176Gln
NM_001256877.1:c.3526G>C	NP_001243806.1:p.Glu1176Gln
NM_001256877.2:c.3526G>C	NP_001243806.1:p.Glu1176Gln
NM_001256877.3:c.3526G>C	NP_001243806.1:p.Glu1176Gln
NM_001354331.1:c.3286G>C	NP_001341260.1:p.Glu1096Gln
NM_001354331.2:c.3286G>C	NP_001341260.1:p.Glu1096Gln
NM_001354332.1:c.3472G>C	NP_001341261.1:p.Glu1158Gln
NM_001354332.2:c.3472G>C	NP_001341261.1:p.Glu1158Gln
NM_001354333.1:c.3052G>C	NP_001341262.1:p.Glu1018Gln
NM_001354333.2:c.3052G>C	NP_001341262.1:p.Glu1018Gln
NM_001354334.1:c.3526G>C	NP_001341263.1:p.Glu1176Gln
NM_001354334.2:c.3526G>C	NP_001341263.1:p.Glu1176Gln
NM_001354335.1:c.3052G>C	NP_001341264.1:p.Glu1018Gln
NM_001354335.2:c.3052G>C	NP_001341264.1:p.Glu1018Gln
NM_001354336.1:c.2758G>C	NP_001341265.1:p.Glu920Gln
NM_001354336.2:c.2758G>C	NP_001341265.1:p.Glu920Gln
NM_001354337.1:c.3052G>C	NP_001341266.1:p.Glu1018Gln
NM_001354337.2:c.3052G>C	NP_001341266.1:p.Glu1018Gln
NM_001354338.1:c.2998G>C	NP_001341267.1:p.Glu1000Gln
NM_001354338.2:c.2998G>C	NP_001341267.1:p.Glu1000Gln
NM_001354339.1:c.2812G>C	NP_001341268.1:p.Glu938Gln
NM_001354339.2:c.2812G>C	NP_001341268.1:p.Glu938Gln
NM_001354340.1:c.2998G>C	NP_001341269.1:p.Glu1000Gln
NM_001354340.2:c.2998G>C	NP_001341269.1:p.Glu1000Gln
NM_001354341.1:c.3052G>C	NP_001341270.1:p.Glu1018Gln
NM_001354341.2:c.3052G>C	NP_001341270.1:p.Glu1018Gln
NM_001354342.1:c.2812G>C	NP_001341271.1:p.Glu938Gln
NM_001354342.2:c.2812G>C	NP_001341271.1:p.Glu938Gln
NM_001354343.1:c.2812G>C	NP_001341272.1:p.Glu938Gln
NM_001354343.2:c.2812G>C	NP_001341272.1:p.Glu938Gln
NM_001354344.1:c.2998G>C	NP_001341273.1:p.Glu1000Gln
NM_001354344.2:c.2998G>C	NP_001341273.1:p.Glu1000Gln
NM_015158.3:c.3526G>C	NP_055973.2:p.Glu1176Gln
NM_015158.4:c.3526G>C	NP_055973.2:p.Glu1176Gln
NM_153186.4:c.3052G>C	NP_694856.1:p.Glu1018Gln
NM_153186.5:c.3052G>C	NP_694856.1:p.Glu1018Gln
NM_153186.6:c.3052G>C	NP_694856.1:p.Glu1018Gln
NR_148869.1:n.4030G>C
NR_148869.2:n.3654G>C
ENST00000382286.2:c.281G>C
ENST00000382286.3:c.595G>C	ENSP00000371723.4:p.Glu199Gln
ENST00000382289.6:c.526G>C	ENSP00000371726.2:p.Glu176Gln
ENST00000382289.7:c.865G>C	ENSP00000371726.3:p.Glu289Gln
ENST00000382293.7:c.3052G>C	ENSP00000371730.3:p.Glu1018Gln
ENST00000382297.6:c.3526G>C	ENSP00000371734.2:p.Glu1176Gln
ENST00000382303.5:c.3526G>C	ENSP00000371740.1:p.Glu1176Gln
ENST00000489369.5:n.5792G>C
ENST00000619269.4:c.3526G>C	ENSP00000477725.1:p.Glu1176Gln
ENST00000619269.5:c.3595G>C	ENSP00000477725.2:p.Glu1199Gln
ENST00000674102.1:c.3526G>C	ENSP00000501167.1:p.Glu1176Gln
ENST00000685049.1:n.1072G>C
ENST00000685380.1:c.2854G>C	ENSP00000508606.1:p.Glu952Gln
ENST00000685590.1:c.2758G>C	ENSP00000510487.1:p.Glu920Gln
ENST00000685947.1:c.3526G>C	ENSP00000508833.1:p.Glu1176Gln
ENST00000687662.1:c.2998G>C	ENSP00000509160.1:p.Glu1000Gln
ENST00000687796.1:c.3052G>C	ENSP00000510058.1:p.Glu1018Gln
ENST00000688039.1:c.*621G>C	ENSP00000510133.1:n.*621G>C
ENST00000688321.1:n.918G>C
ENST00000689214.1:c.*1048G>C	ENSP00000508779.1:n.*1048G>C
ENST00000689779.1:c.3526G>C	ENSP00000508451.1:p.Glu1176Gln
ENST00000689926.1:c.3286G>C	ENSP00000510088.1:p.Glu1096Gln
ENST00000690348.1:c.3121G>C	ENSP00000509448.1:p.Glu1041Gln
ENST00000690372.1:c.3052G>C	ENSP00000509433.1:p.Glu1018Gln
ENST00000691319.1:c.3286G>C	ENSP00000509034.1:p.Glu1096Gln
ENST00000691645.1:c.*270G>C	ENSP00000508795.1:n.*270G>C
ENST00000692130.1:n.4773G>C
ENST00000692345.1:c.3052G>C	ENSP00000508925.1:p.Glu1018Gln
ENST00000692757.1:c.2812G>C	ENSP00000510316.1:p.Glu938Gln
ENST00000693021.1:c.2758G>C	ENSP00000509347.1:p.Glu920Gln
ENST00000693088.1:c.3052G>C	ENSP00000510671.1:p.Glu1018Gln
ENST00000693143.1:c.2812G>C	ENSP00000510515.1:p.Glu938Gln
XM_005251411.2:c.3526G>C	XP_005251468.1:p.Glu1176Gln
XM_005251414.2:c.3052G>C	XP_005251471.1:p.Glu1018Gln
XM_005251415.2:c.3052G>C	XP_005251472.1:p.Glu1018Gln
XM_005251416.2:c.3052G>C	XP_005251473.1:p.Glu1018Gln
XM_005251417.2:c.3052G>C	XP_005251474.1:p.Glu1018Gln
XM_005251418.2:c.3052G>C	XP_005251475.1:p.Glu1018Gln
XM_005251419.2:c.3052G>C	XP_005251476.1:p.Glu1018Gln
XM_006716743.2:c.3526G>C	XP_006716806.1:p.Glu1176Gln
XM_011517817.1:c.3526G>C	XP_011516119.1:p.Glu1176Gln
XM_011517818.1:c.3526G>C	XP_011516120.1:p.Glu1176Gln
XM_011517819.1:c.3526G>C	XP_011516121.1:p.Glu1176Gln
XM_011517820.1:c.3526G>C	XP_011516122.1:p.Glu1176Gln
XM_011517821.1:c.3526G>C	XP_011516123.1:p.Glu1176Gln
XM_011517822.1:c.3472G>C	XP_011516124.1:p.Glu1158Gln
XM_011517823.1:c.3472G>C	XP_011516125.1:p.Glu1158Gln
XM_011517824.1:c.3286G>C	XP_011516126.1:p.Glu1096Gln
XM_011517825.1:c.3052G>C	XP_011516127.1:p.Glu1018Gln
XM_017014517.2:c.3472G>C	XP_016870006.1:p.Glu1158Gln
XM_017014522.2:c.3286G>C	XP_016870011.1:p.Glu1096Gln
XM_017014525.2:c.3232G>C	XP_016870014.1:p.Glu1078Gln
XM_024447460.1:c.3526G>C	XP_024303228.1:p.Glu1176Gln
XM_024447461.1:c.3526G>C	XP_024303229.1:p.Glu1176Gln
XM_024447462.1:c.3526G>C	XP_024303230.1:p.Glu1176Gln
XM_024447463.1:c.3526G>C	XP_024303231.1:p.Glu1176Gln
XM_024447464.1:c.3526G>C	XP_024303232.1:p.Glu1176Gln
XM_024447465.1:c.3526G>C	XP_024303233.1:p.Glu1176Gln
XM_024447466.1:c.3526G>C	XP_024303234.1:p.Glu1176Gln
XM_024447467.1:c.3526G>C	XP_024303235.1:p.Glu1176Gln
XM_024447468.1:c.3526G>C	XP_024303236.1:p.Glu1176Gln
XM_024447469.1:c.3286G>C	XP_024303237.1:p.Glu1096Gln
XM_024447470.1:c.3052G>C	XP_024303238.1:p.Glu1018Gln
XM_024447471.1:c.2998G>C	XP_024303239.1:p.Glu1000Gln
XR_002956771.1:n.4564G>C