Canonical Allele Identifier: CA393637097

Gene: SCAPER

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.76702886A>T , CM000677.2:g.76702886A>T	GRCh38
NC_000015.9:g.76995227A>T , CM000677.1:g.76995227A>T	GRCh37
NC_000015.8:g.74782282A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_020843.4:c.2364T>A MANE Select	NP_065894.2:p.Tyr788Ter
ENST00000563290.6:c.2364T>A MANE Select	ENSP00000454973.1:p.Tyr788Ter
NM_001145923.1:c.1626T>A	NP_001139395.1:p.Tyr542Ter
NM_001145923.2:c.1626T>A	NP_001139395.1:p.Tyr542Ter
NM_001353009.1:c.2382T>A	NP_001339938.1:p.Tyr794Ter
NM_001353009.2:c.2382T>A	NP_001339938.1:p.Tyr794Ter
NM_001353010.1:c.1962T>A	NP_001339939.1:p.Tyr654Ter
NM_001353010.2:c.1962T>A	NP_001339939.1:p.Tyr654Ter
NM_001353011.1:c.1980T>A	NP_001339940.1:p.Tyr660Ter
NM_001353011.2:c.1980T>A	NP_001339940.1:p.Tyr660Ter
NM_001353012.1:c.1962T>A	NP_001339941.1:p.Tyr654Ter
NM_001353012.2:c.1962T>A	NP_001339941.1:p.Tyr654Ter
NM_020843.2:c.2364T>A	NP_065894.2:p.Tyr788Ter
NM_020843.3:c.2364T>A	NP_065894.2:p.Tyr788Ter
NR_148227.1:n.2639T>A
NR_148227.2:n.2522T>A
ENST00000303521.10:n.2428T>A
ENST00000324767.11:c.2364T>A	ENSP00000326924.7:p.Tyr788Ter
ENST00000538941.6:c.1626T>A	ENSP00000442190.2:p.Tyr542Ter
ENST00000563290.5:c.2364T>A	ENSP00000454973.1:p.Tyr788Ter
XM_005254417.2:c.2382T>A	XP_005254474.1:p.Tyr794Ter
XM_005254419.2:c.2364T>A	XP_005254476.1:p.Tyr788Ter
XM_011521648.1:c.2538T>A	XP_011519950.1:p.Tyr846Ter
XM_011521649.1:c.2520T>A	XP_011519951.1:p.Tyr840Ter
XM_011521650.1:c.2382T>A	XP_011519952.1:p.Tyr794Ter
XM_011521651.1:c.2538T>A	XP_011519953.1:p.Tyr846Ter
XM_011521652.1:c.2334T>A	XP_011519954.1:p.Tyr778Ter
XM_011521653.1:c.1980T>A	XP_011519955.1:p.Tyr660Ter
XM_011521653.3:c.1980T>A	XP_011519955.1:p.Tyr660Ter
XM_011521654.1:c.1644T>A	XP_011519956.1:p.Tyr548Ter
XM_011521655.1:c.2538T>A	XP_011519957.1:p.Tyr846Ter
XM_011521656.1:c.522T>A	XP_011519958.1:p.Tyr174Ter
XM_011521656.3:c.522T>A	XP_011519958.1:p.Tyr174Ter
XM_017022268.1:c.2382T>A	XP_016877757.1:p.Tyr794Ter
XM_017022269.1:c.2364T>A	XP_016877758.1:p.Tyr788Ter
XM_017022270.1:c.2364T>A	XP_016877759.1:p.Tyr788Ter
XM_017022272.1:c.2382T>A	XP_016877761.1:p.Tyr794Ter
XM_017022273.1:c.1962T>A	XP_016877762.1:p.Tyr654Ter
XM_017022275.2:c.1539T>A	XP_016877764.1:p.Tyr513Ter
XM_017022276.1:c.1539T>A	XP_016877765.1:p.Tyr513Ter
XM_017022277.2:c.1521T>A	XP_016877766.1:p.Tyr507Ter
XM_017022278.2:c.1521T>A	XP_016877767.1:p.Tyr507Ter
XM_017022283.1:c.2364T>A	XP_016877772.1:p.Tyr788Ter
XM_024449937.1:c.1980T>A	XP_024305705.1:p.Tyr660Ter
XM_024449938.1:c.1644T>A	XP_024305706.1:p.Tyr548Ter
XM_024449939.1:c.1626T>A	XP_024305707.1:p.Tyr542Ter
XM_024449940.1:c.1980T>A	XP_024305708.1:p.Tyr660Ter
XM_024449941.1:c.1980T>A	XP_024305709.1:p.Tyr660Ter
XM_024449942.1:c.1980T>A	XP_024305710.1:p.Tyr660Ter
XM_024449943.1:c.1980T>A	XP_024305711.1:p.Tyr660Ter
XM_024449944.1:c.1980T>A	XP_024305712.1:p.Tyr660Ter
XR_002957646.1:n.2251T>A
XR_002957647.1:n.2251T>A