Canonical Allele Identifier: CA5439892

Gene: KIAA1217

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.24524606G>C , CM000672.2:g.24524606G>C	GRCh38
NC_000010.10:g.24813535G>C , CM000672.1:g.24813535G>C	GRCh37
NC_000010.9:g.24853541G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696626.1:c.2503G>C	ENSP00000512763.1:p.Ala835Pro
ENST00000376454.8:c.2740G>C MANE Select	ENSP00000365637.3:p.Ala914Pro
ENST00000307544.10:c.1789G>C	ENSP00000302343.6:p.Ala597Pro
ENST00000376451.4:c.1789G>C	ENSP00000365634.2:p.Ala597Pro
ENST00000376452.7:c.2635G>C	ENSP00000365635.3:p.Ala879Pro
ENST00000376454.7:c.2740G>C	ENSP00000365637.3:p.Ala914Pro
ENST00000376456.8:c.2635G>C	ENSP00000365639.4:p.Ala879Pro
ENST00000376462.5:c.2500G>C	ENSP00000365645.1:p.Ala834Pro
ENST00000396445.5:c.1789G>C	ENSP00000379722.1:p.Ala597Pro
ENST00000396446.5:c.1789G>C	ENSP00000379723.1:p.Ala597Pro
ENST00000430453.6:c.2500G>C	ENSP00000389680.3:p.Ala834Pro
ENST00000438429.5:c.2185G>C	ENSP00000404798.1:p.Ala729Pro
ENST00000458595.5:c.2635G>C	ENSP00000392625.1:p.Ala879Pro
NM_001098500.2:c.2500G>C	NP_001091970.1:p.Ala834Pro
NM_001282767.1:c.2635G>C	NP_001269696.1:p.Ala879Pro
NM_001282768.1:c.2635G>C	NP_001269697.1:p.Ala879Pro
NM_001282769.1:c.1789G>C	NP_001269698.1:p.Ala597Pro
NM_001282770.1:c.1789G>C	NP_001269699.1:p.Ala597Pro
NM_019590.4:c.2740G>C	NP_062536.2:p.Ala914Pro
XM_005252500.2:c.2821G>C	XP_005252557.1:p.Ala941Pro
XM_005252503.2:c.2740G>C	XP_005252560.1:p.Ala914Pro
XM_005252507.2:c.2635G>C	XP_005252564.1:p.Ala879Pro
XM_005252512.2:c.2290G>C	XP_005252569.1:p.Ala764Pro
XM_005252513.2:c.2185G>C	XP_005252570.1:p.Ala729Pro
XM_005252514.2:c.1894G>C	XP_005252571.1:p.Ala632Pro
XM_005252515.2:c.1894G>C	XP_005252572.1:p.Ala632Pro
XM_005252516.2:c.1789G>C	XP_005252573.1:p.Ala597Pro
XM_006717469.2:c.1900G>C	XP_006717532.2:p.Ala634Pro
XM_011519549.1:c.2581G>C	XP_011517851.1:p.Ala861Pro
XM_011519550.1:c.2581G>C	XP_011517852.1:p.Ala861Pro
XM_011519551.1:c.2581G>C	XP_011517853.1:p.Ala861Pro
XM_011519552.1:c.2581G>C	XP_011517854.1:p.Ala861Pro
XM_011519553.1:c.2500G>C	XP_011517855.1:p.Ala834Pro
XM_011519554.1:c.2476G>C	XP_011517856.1:p.Ala826Pro
XM_011519555.1:c.2500G>C	XP_011517857.1:p.Ala834Pro
XM_011519556.1:c.2581G>C	XP_011517858.1:p.Ala861Pro
XM_011519557.1:c.2476G>C	XP_011517859.1:p.Ala826Pro
XM_011519558.1:c.2581G>C	XP_011517860.1:p.Ala861Pro
XM_011519559.1:c.2395G>C	XP_011517861.1:p.Ala799Pro
XM_011519560.1:c.2290G>C	XP_011517862.1:p.Ala764Pro
XM_011519561.1:c.2581G>C	XP_011517863.1:p.Ala861Pro
XM_011519562.1:c.2581G>C	XP_011517864.1:p.Ala861Pro
XM_011519563.1:c.2581G>C	XP_011517865.1:p.Ala861Pro
XM_011519564.1:c.2395G>C	XP_011517866.1:p.Ala799Pro
XM_011519565.1:c.2500G>C	XP_011517867.1:p.Ala834Pro
XM_011519566.1:c.2395G>C	XP_011517868.1:p.Ala799Pro
XM_011519567.1:c.2476G>C	XP_011517869.1:p.Ala826Pro
XM_011519568.1:c.2476G>C	XP_011517870.1:p.Ala826Pro
NM_001321681.1:c.1894G>C	NP_001308610.1:p.Ala632Pro
XM_005252516.4:c.1789G>C	XP_005252573.1:p.Ala597Pro
XM_011519552.3:c.2962G>C	XP_011517854.2:p.Ala988Pro
XM_011519555.3:c.2881G>C	XP_011517857.2:p.Ala961Pro
XM_011519558.2:c.2962G>C	XP_011517860.2:p.Ala988Pro
XM_011519559.2:c.2776G>C	XP_011517861.2:p.Ala926Pro
XM_011519562.2:c.2962G>C	XP_011517864.2:p.Ala988Pro
XM_011519564.2:c.2395G>C	XP_011517866.1:p.Ala799Pro
XM_011519565.3:c.2881G>C	XP_011517867.2:p.Ala961Pro
XM_011519566.2:c.2776G>C	XP_011517868.2:p.Ala926Pro
XM_017016416.1:c.2821G>C	XP_016871905.1:p.Ala941Pro
XM_017016417.1:c.2635G>C	XP_016871906.1:p.Ala879Pro
XM_017016418.2:c.2503G>C	XP_016871907.1:p.Ala835Pro
XM_017016419.2:c.2398G>C	XP_016871908.1:p.Ala800Pro
XM_017016420.1:c.2290G>C	XP_016871909.1:p.Ala764Pro
XM_017016421.1:c.2290G>C	XP_016871910.1:p.Ala764Pro
XM_017016422.1:c.2185G>C	XP_016871911.1:p.Ala729Pro
XM_017016423.1:c.1894G>C	XP_016871912.1:p.Ala632Pro
XM_017016424.1:c.1894G>C	XP_016871913.1:p.Ala632Pro
XM_017016425.2:c.2962G>C	XP_016871914.1:p.Ala988Pro
XM_017016426.2:c.2962G>C	XP_016871915.1:p.Ala988Pro
XM_017016427.2:c.2857G>C	XP_016871916.1:p.Ala953Pro
XM_017016429.1:c.2500G>C	XP_016871918.1:p.Ala834Pro
XM_024448082.1:c.2500G>C	XP_024303850.1:p.Ala834Pro
XM_024448083.1:c.2500G>C	XP_024303851.1:p.Ala834Pro
XM_024448084.1:c.2500G>C	XP_024303852.1:p.Ala834Pro
XM_024448085.1:c.2500G>C	XP_024303853.1:p.Ala834Pro
XM_024448086.1:c.2500G>C	XP_024303854.1:p.Ala834Pro
NM_019590.5:c.2740G>C MANE Select	NP_062536.2:p.Ala914Pro
NM_001098500.3:c.2500G>C	NP_001091970.1:p.Ala834Pro
NM_001282769.2:c.1789G>C	NP_001269698.1:p.Ala597Pro
NM_001282770.2:c.1789G>C	NP_001269699.1:p.Ala597Pro
NM_001321681.2:c.1894G>C	NP_001308610.1:p.Ala632Pro
NM_001282767.2:c.2635G>C	NP_001269696.1:p.Ala879Pro
NM_001282768.2:c.2635G>C	NP_001269697.1:p.Ala879Pro