Canonical Allele Identifier: CA3950775

Gene: CEP57L1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109150170G>A , CM000668.2:g.109150170G>A	GRCh38
NC_000006.11:g.109471373G>A , CM000668.1:g.109471373G>A	GRCh37
NC_000006.10:g.109578066G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001271852.3:c.393G>A MANE Select	NP_001258781.1:p.Lys131=
ENST00000517392.6:c.393G>A MANE Select	ENSP00000427844.1:p.Lys131=
NM_001083535.1:c.393G>A	NP_001077004.1:p.Lys131=
NM_001083535.2:c.393G>A	NP_001077004.1:p.Lys131=
NM_001083535.3:c.393G>A	NP_001077004.1:p.Lys131=
NM_001271852.1:c.393G>A	NP_001258781.1:p.Lys131=
NM_001271852.2:c.393G>A	NP_001258781.1:p.Lys131=
NM_001271853.1:c.393G>A	NP_001258782.1:p.Lys131=
NM_001271853.2:c.393G>A	NP_001258782.1:p.Lys131=
NM_001271853.3:c.393G>A	NP_001258782.1:p.Lys131=
NM_001350652.1:c.393G>A	NP_001337581.1:p.Lys131=
NM_001350652.2:c.393G>A	NP_001337581.1:p.Lys131=
NM_001350653.1:c.393G>A	NP_001337582.1:p.Lys131=
NM_001350653.2:c.393G>A	NP_001337582.1:p.Lys131=
NM_001350654.1:c.393G>A	NP_001337583.1:p.Lys131=
NM_001350654.2:c.393G>A	NP_001337583.1:p.Lys131=
NM_001350655.1:c.393G>A	NP_001337584.1:p.Lys131=
NM_001350655.2:c.393G>A	NP_001337584.1:p.Lys131=
NM_001350656.1:c.393G>A	NP_001337585.1:p.Lys131=
NM_001350656.2:c.393G>A	NP_001337585.1:p.Lys131=
NM_001350657.1:c.393G>A	NP_001337586.1:p.Lys131=
NM_001350657.2:c.393G>A	NP_001337586.1:p.Lys131=
NM_001350658.1:c.393G>A	NP_001337587.1:p.Lys131=
NM_001350658.2:c.393G>A	NP_001337587.1:p.Lys131=
NM_001350659.1:c.345G>A	NP_001337588.1:p.Lys115=
NM_001350659.2:c.345G>A	NP_001337588.1:p.Lys115=
NM_001350660.1:c.-22G>A	NP_001337589.1:n.-22G>A
NM_001350660.2:c.-22G>A	NP_001337589.1:n.-22G>A
NM_001350661.1:c.-22G>A	NP_001337590.1:n.-22G>A
NM_001350661.2:c.-22G>A	NP_001337590.1:n.-22G>A
NM_001350662.1:c.-22G>A	NP_001337591.1:n.-22G>A
NM_001350662.2:c.-22G>A	NP_001337591.1:n.-22G>A
NM_001350663.1:c.-22G>A	NP_001337592.1:n.-22G>A
NM_001350663.2:c.-22G>A	NP_001337592.1:n.-22G>A
NM_001350664.1:c.-22G>A	NP_001337593.1:n.-22G>A
NM_001350664.2:c.-22G>A	NP_001337593.1:n.-22G>A
NM_001350665.1:c.393G>A	NP_001337594.1:p.Lys131=
NM_001350665.2:c.393G>A	NP_001337594.1:p.Lys131=
NM_001350666.1:c.345G>A	NP_001337595.1:p.Lys115=
NM_001350666.2:c.345G>A	NP_001337595.1:p.Lys115=
NM_173830.4:c.393G>A	NP_776191.1:p.Lys131=
NM_173830.5:c.393G>A	NP_776191.1:p.Lys131=
NM_173830.6:c.393G>A	NP_776191.1:p.Lys131=
NR_146888.1:n.1498G>A
NR_146888.2:n.613G>A
NR_146889.1:n.1187G>A
NR_146889.2:n.302G>A
ENST00000359793.7:c.393G>A	ENSP00000352841.3:p.Lys131=
ENST00000368968.6:c.393G>A	ENSP00000357964.2:p.Lys131=
ENST00000368970.6:c.393G>A	ENSP00000357966.2:p.Lys131=
ENST00000407272.5:c.393G>A	ENSP00000383936.2:p.Lys131=
ENST00000517392.5:c.393G>A	ENSP00000427844.1:p.Lys131=
ENST00000518853.5:c.393G>A	ENSP00000430265.1:p.Lys131=
ENST00000519095.5:c.393G>A	ENSP00000430911.1:p.Lys131=
ENST00000519286.5:c.393G>A	ENSP00000429812.1:p.Lys131=
ENST00000519407.5:c.-22G>A	ENSP00000430565.1:n.-22G>A
ENST00000520610.5:c.-22G>A	ENSP00000428668.1:n.-22G>A
ENST00000520761.1:n.258G>A
ENST00000520883.5:c.165G>A	ENSP00000430011.1:p.Lys55=
ENST00000521277.5:c.345G>A	ENSP00000430558.1:p.Lys115=
ENST00000521522.5:c.393G>A	ENSP00000428344.1:p.Lys131=
ENST00000522490.5:c.-22G>A	ENSP00000429957.1:n.-22G>A
ENST00000523209.5:c.-22G>A	ENSP00000430013.1:n.-22G>A
ENST00000523787.5:c.402G>A	ENSP00000430529.1:p.Lys134=
ENST00000524064.5:c.393G>A	ENSP00000427771.1:p.Lys131=
XM_005266935.3:c.393G>A	XP_005266992.2:p.Lys131=
XM_005266935.5:c.507G>A	XP_005266992.3:p.Lys169=
XM_005266936.3:c.393G>A	XP_005266993.2:p.Lys131=
XM_005266936.4:c.507G>A	XP_005266993.3:p.Lys169=
XM_005266937.3:c.345G>A	XP_005266994.2:p.Lys115=
XM_005266937.4:c.459G>A	XP_005266994.3:p.Lys153=
XM_005266938.3:c.393G>A	XP_005266995.2:p.Lys131=
XM_005266938.4:c.507G>A	XP_005266995.3:p.Lys169=
XM_006715461.2:c.393G>A	XP_006715524.1:p.Lys131=
XM_006715462.2:c.393G>A	XP_006715525.1:p.Lys131=
XM_006715462.3:c.393G>A	XP_006715525.1:p.Lys131=
XM_011535759.1:c.393G>A	XP_011534061.1:p.Lys131=
XM_011535760.1:c.402G>A	XP_011534062.1:p.Lys134=
XM_011535761.1:c.393G>A	XP_011534063.1:p.Lys131=
XM_011535762.1:c.-160G>A	XP_011534064.1:n.-160G>A
XM_011535762.2:c.-160G>A	XP_011534064.1:n.-160G>A
XM_011535763.1:c.393G>A	XP_011534065.1:p.Lys131=
XM_011535763.2:c.507G>A	XP_011534065.2:p.Lys169=
XM_017010768.2:c.393G>A	XP_016866257.1:p.Lys131=
XM_017010769.1:c.402G>A	XP_016866258.1:p.Lys134=
XM_017010771.1:c.-163G>A	XP_016866260.1:n.-163G>A
XM_024446404.1:c.402G>A	XP_024302172.1:p.Lys134=
XM_024446405.1:c.393G>A	XP_024302173.1:p.Lys131=
XM_024446406.1:c.345G>A	XP_024302174.1:p.Lys115=