Canonical Allele Identifier: CA382741859

Gene: CEP164

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117380707T>C , CM000673.2:g.117380707T>C	GRCh38
NC_000011.9:g.117251423T>C , CM000673.1:g.117251423T>C	GRCh37
NC_000011.8:g.116756633T>C	NCBI36
NG_033032.1:g.63930T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014956.5:c.1409+2T>C MANE Select	NP_055771.4:n.1409+2T>C
ENST00000278935.8:c.1409+2T>C MANE Select	ENSP00000278935.3:n.1409+2T>C
NM_001271933.1:c.1411T>C	NP_001258862.1:p.Tyr471His
NM_001271933.2:c.1411T>C	NP_001258862.1:p.Tyr471His
NM_014956.4:c.1409+2T>C	NP_055771.4:n.1409+2T>C
ENST00000278935.7:c.1409+2T>C	ENSP00000278935.3:n.1409+2T>C
ENST00000533675.5:n.1657T>C
ENST00000533706.5:n.733+2T>C
XM_005271453.1:c.3095+2T>C	XP_005271510.1:n.3095+2T>C
XM_005271456.1:c.1409+2T>C	XP_005271513.1:n.1409+2T>C
XM_005271457.1:c.1411T>C	XP_005271514.1:p.Tyr471His
XM_006718788.1:c.3097T>C	XP_006718851.1:p.Tyr1033His
XM_006718794.1:c.1331+2T>C	XP_006718857.1:n.1331+2T>C
XM_011542670.1:c.3097T>C	XP_011540972.1:p.Tyr1033His
XM_011542671.1:c.3097T>C	XP_011540973.1:p.Tyr1033His
XM_011542672.1:c.3097T>C	XP_011540974.1:p.Tyr1033His
XM_011542673.1:c.3097T>C	XP_011540975.1:p.Tyr1033His
XM_011542674.1:c.3095+2T>C	XP_011540976.1:n.3095+2T>C
XM_011542675.1:c.3097T>C	XP_011540977.1:p.Tyr1033His
XM_011542676.1:c.3019T>C	XP_011540978.1:p.Tyr1007His
XM_011542677.1:c.2959T>C	XP_011540979.1:p.Tyr987His
XM_011542678.1:c.2959T>C	XP_011540980.1:p.Tyr987His
XM_011542679.1:c.3097T>C	XP_011540981.1:p.Tyr1033His
XM_011542680.1:c.2851T>C	XP_011540982.1:p.Tyr951His
XM_011542681.1:c.3097T>C	XP_011540983.1:p.Tyr1033His
XM_011542682.1:c.1411T>C	XP_011540984.1:p.Tyr471His
XM_011542683.1:c.1411T>C	XP_011540985.1:p.Tyr471His
XM_011542685.1:c.1333T>C	XP_011540987.1:p.Tyr445His
XM_011542686.1:c.1333T>C	XP_011540988.1:p.Tyr445His
XM_011542687.1:c.1273T>C	XP_011540989.1:p.Tyr425His
XM_011542688.1:c.1072T>C	XP_011540990.1:p.Tyr358His
XM_017017364.1:c.3095+2T>C	XP_016872853.1:n.3095+2T>C
XM_017017365.1:c.3095+2T>C	XP_016872854.1:n.3095+2T>C
XM_017017366.1:c.3095+2T>C	XP_016872855.1:n.3095+2T>C
XM_017017367.1:c.3095+2T>C	XP_016872856.1:n.3095+2T>C
XM_017017368.1:c.3095+2T>C	XP_016872857.1:n.3095+2T>C
XM_017017369.1:c.3095+2T>C	XP_016872858.1:n.3095+2T>C
XM_017017370.1:c.3095+2T>C	XP_016872859.1:n.3095+2T>C
XM_017017371.1:c.3017+2T>C	XP_016872860.1:n.3017+2T>C
XM_017017372.1:c.3017+2T>C	XP_016872861.1:n.3017+2T>C
XM_017017373.2:c.2957+2T>C	XP_016872862.1:n.2957+2T>C
XM_017017374.1:c.2957+2T>C	XP_016872863.1:n.2957+2T>C
XM_017017375.2:c.2957+2T>C	XP_016872864.1:n.2957+2T>C
XM_017017376.1:c.3095+2T>C	XP_016872865.1:n.3095+2T>C
XM_017017377.2:c.2849+2T>C	XP_016872866.1:n.2849+2T>C
XM_017017378.1:c.3095+2T>C	XP_016872867.1:n.3095+2T>C
XM_017017379.1:c.1409+2T>C	XP_016872868.1:n.1409+2T>C
XM_017017380.1:c.1409+2T>C	XP_016872869.1:n.1409+2T>C
XM_017017381.1:c.1331+2T>C	XP_016872870.1:n.1331+2T>C
XM_017017382.1:c.1331+2T>C	XP_016872871.1:n.1331+2T>C
XM_017017383.1:c.1271+2T>C	XP_016872872.1:n.1271+2T>C
XM_017017384.1:c.1271+2T>C	XP_016872873.1:n.1271+2T>C
XM_017017385.1:c.1070+2T>C	XP_016872874.1:n.1070+2T>C
XM_017017386.1:c.1193+2T>C	XP_016872875.1:n.1193+2T>C
XR_001747793.1:n.3513+2T>C
XR_001747794.1:n.3513+2T>C
XR_002957132.1:n.3513+2T>C
XR_002957133.1:n.3513+2T>C
XR_428971.2:n.3515T>C
XR_428971.3:n.3515T>C
XR_947808.1:n.3515T>C
XR_947809.1:n.3515T>C
XR_947810.1:n.3513+2T>C
XR_947811.1:n.3515T>C