Canonical Allele Identifier: CA3176757

Gene: CEP72

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.635513C>T , CM000667.2:g.635513C>T	GRCh38
NC_000005.9:g.635628C>T , CM000667.1:g.635628C>T	GRCh37
NC_000005.8:g.688628C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264935.6:c.833C>T MANE Select	ENSP00000264935.5:p.Pro278Leu
ENST00000264935.5:c.833C>T	ENSP00000264935.5:p.Pro278Leu
NM_018140.3:c.833C>T	NP_060610.2:p.Pro278Leu
XM_005248322.2:c.683C>T	XP_005248379.1:p.Pro228Leu
XM_005248323.2:c.266C>T	XP_005248380.1:p.Pro89Leu
XM_011514063.1:c.833C>T	XP_011512365.1:p.Pro278Leu
XM_011514064.1:c.683C>T	XP_011512366.1:p.Pro228Leu
XM_011514065.1:c.683C>T	XP_011512367.1:p.Pro228Leu
XM_011514066.1:c.683C>T	XP_011512368.1:p.Pro228Leu
XR_925628.1:n.851C>T
XR_925630.1:n.851C>T
XR_925631.1:n.851C>T
XM_005248322.3:c.683C>T	XP_005248379.1:p.Pro228Leu
XM_011514064.2:c.683C>T	XP_011512366.1:p.Pro228Leu
XM_017009626.1:c.266C>T	XP_016865115.1:p.Pro89Leu
XM_017009627.1:c.266C>T	XP_016865116.1:p.Pro89Leu
XR_001742146.1:n.845C>T
XR_001742147.2:n.828C>T
XR_001742148.1:n.775C>T
XR_001742149.1:n.849C>T
XR_925630.2:n.851C>T
XR_925631.2:n.851C>T
NM_018140.4:c.833C>T MANE Select	NP_060610.2:p.Pro278Leu
NR_164122.1:n.1013C>T