Canonical Allele Identifier: CA393637538
Community Standard Title: NM_020843.4(SCAPER):c.2179C>T (p.Arg727Ter)
Gene: SCAPER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.76705971G>A , CM000677.2:g.76705971G>A GRCh38
NC_000015.9:g.76998312G>A , CM000677.1:g.76998312G>A GRCh37
NC_000015.8:g.74785367G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_020843.4:c.2179C>T MANE Select NP_065894.2:p.Arg727Ter
ENST00000563290.6:c.2179C>T MANE Select ENSP00000454973.1:p.Arg727Ter
NM_001145923.1:c.1441C>T NP_001139395.1:p.Arg481Ter
NM_001145923.2:c.1441C>T NP_001139395.1:p.Arg481Ter
NM_001353009.1:c.2197C>T NP_001339938.1:p.Arg733Ter
NM_001353009.2:c.2197C>T NP_001339938.1:p.Arg733Ter
NM_001353010.1:c.1777C>T NP_001339939.1:p.Arg593Ter
NM_001353010.2:c.1777C>T NP_001339939.1:p.Arg593Ter
NM_001353011.1:c.1795C>T NP_001339940.1:p.Arg599Ter
NM_001353011.2:c.1795C>T NP_001339940.1:p.Arg599Ter
NM_001353012.1:c.1777C>T NP_001339941.1:p.Arg593Ter
NM_001353012.2:c.1777C>T NP_001339941.1:p.Arg593Ter
NM_020843.2:c.2179C>T NP_065894.2:p.Arg727Ter
NM_020843.3:c.2179C>T NP_065894.2:p.Arg727Ter
NR_148227.1:n.2454C>T
NR_148227.2:n.2337C>T
ENST00000303521.10:n.2243C>T
ENST00000324767.11:c.2179C>T ENSP00000326924.7:p.Arg727Ter
ENST00000538941.6:c.1441C>T ENSP00000442190.2:p.Arg481Ter
ENST00000563290.5:c.2179C>T ENSP00000454973.1:p.Arg727Ter
ENST00000564590.5:c.2197C>T ENSP00000456508.1:p.Arg733Ter
ENST00000565507.5:c.*2018C>T ENSP00000455623.1:n.*2018C>T
ENST00000565970.5:c.2197C>T ENSP00000455378.1:p.Arg733Ter
XM_005254417.2:c.2197C>T XP_005254474.1:p.Arg733Ter
XM_005254419.2:c.2179C>T XP_005254476.1:p.Arg727Ter
XM_011521648.1:c.2353C>T XP_011519950.1:p.Arg785Ter
XM_011521649.1:c.2335C>T XP_011519951.1:p.Arg779Ter
XM_011521650.1:c.2197C>T XP_011519952.1:p.Arg733Ter
XM_011521651.1:c.2353C>T XP_011519953.1:p.Arg785Ter
XM_011521652.1:c.2149C>T XP_011519954.1:p.Arg717Ter
XM_011521653.1:c.1795C>T XP_011519955.1:p.Arg599Ter
XM_011521653.3:c.1795C>T XP_011519955.1:p.Arg599Ter
XM_011521654.1:c.1459C>T XP_011519956.1:p.Arg487Ter
XM_011521655.1:c.2353C>T XP_011519957.1:p.Arg785Ter
XM_011521656.1:c.337C>T XP_011519958.1:p.Arg113Ter
XM_011521656.3:c.337C>T XP_011519958.1:p.Arg113Ter
XM_017022268.1:c.2197C>T XP_016877757.1:p.Arg733Ter
XM_017022269.1:c.2179C>T XP_016877758.1:p.Arg727Ter
XM_017022270.1:c.2179C>T XP_016877759.1:p.Arg727Ter
XM_017022272.1:c.2197C>T XP_016877761.1:p.Arg733Ter
XM_017022273.1:c.1777C>T XP_016877762.1:p.Arg593Ter
XM_017022275.2:c.1354C>T XP_016877764.1:p.Arg452Ter
XM_017022276.1:c.1354C>T XP_016877765.1:p.Arg452Ter
XM_017022277.2:c.1336C>T XP_016877766.1:p.Arg446Ter
XM_017022278.2:c.1336C>T XP_016877767.1:p.Arg446Ter
XM_017022283.1:c.2179C>T XP_016877772.1:p.Arg727Ter
XM_024449937.1:c.1795C>T XP_024305705.1:p.Arg599Ter
XM_024449938.1:c.1459C>T XP_024305706.1:p.Arg487Ter
XM_024449939.1:c.1441C>T XP_024305707.1:p.Arg481Ter
XM_024449940.1:c.1795C>T XP_024305708.1:p.Arg599Ter
XM_024449941.1:c.1795C>T XP_024305709.1:p.Arg599Ter
XM_024449942.1:c.1795C>T XP_024305710.1:p.Arg599Ter
XM_024449943.1:c.1795C>T XP_024305711.1:p.Arg599Ter
XM_024449944.1:c.1795C>T XP_024305712.1:p.Arg599Ter
XR_002957646.1:n.2066C>T
XR_002957647.1:n.2066C>T