Canonical Allele Identifier: CA971658622

Gene: SCAPER

Linked Data

• dbSNP Id: rs2061384672
• gnomAD v3: 15-76738449-C-A
• gnomAD v4: 15-76738449-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.76738449C>A , CM000677.2:g.76738449C>A	GRCh38
NC_000015.9:g.77030790C>A , CM000677.1:g.77030790C>A	GRCh37
NC_000015.8:g.74817845C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563290.6:c.1867-5065G>T MANE Select	ENSP00000454973.1:n.1867-5065G>T
ENST00000303521.10:n.1931-5065G>T
ENST00000324767.11:c.1867-5065G>T	ENSP00000326924.7:n.1867-5065G>T
ENST00000538941.6:c.1129-5065G>T	ENSP00000442190.2:n.1129-5065G>T
ENST00000563290.5:c.1867-5065G>T	ENSP00000454973.1:n.1867-5065G>T
ENST00000564590.5:c.1885-5065G>T	ENSP00000456508.1:n.1885-5065G>T
ENST00000565507.5:c.*1706-5065G>T	ENSP00000455623.1:n.*1706-5065G>T
ENST00000565970.5:c.1885-5065G>T	ENSP00000455378.1:n.1885-5065G>T
NM_001145923.1:c.1129-5065G>T	NP_001139395.1:n.1129-5065G>T
NM_020843.2:c.1867-5065G>T	NP_065894.2:n.1867-5065G>T
XM_005254417.2:c.1885-5065G>T	XP_005254474.1:n.1885-5065G>T
XM_005254419.2:c.1867-5065G>T	XP_005254476.1:n.1867-5065G>T
XM_011521648.1:c.2041-5065G>T	XP_011519950.1:n.2041-5065G>T
XM_011521649.1:c.2023-5065G>T	XP_011519951.1:n.2023-5065G>T
XM_011521650.1:c.1885-5065G>T	XP_011519952.1:n.1885-5065G>T
XM_011521651.1:c.2041-5065G>T	XP_011519953.1:n.2041-5065G>T
XM_011521652.1:c.1837-5065G>T	XP_011519954.1:n.1837-5065G>T
XM_011521653.1:c.1483-5065G>T	XP_011519955.1:n.1483-5065G>T
XM_011521654.1:c.1147-5065G>T	XP_011519956.1:n.1147-5065G>T
XM_011521655.1:c.2041-5065G>T	XP_011519957.1:n.2041-5065G>T
XM_011521656.1:c.24+853G>T	XP_011519958.1:n.24+853G>T
NM_001353009.1:c.1885-5065G>T	NP_001339938.1:n.1885-5065G>T
NM_001353010.1:c.1465-5065G>T	NP_001339939.1:n.1465-5065G>T
NM_001353011.1:c.1483-5065G>T	NP_001339940.1:n.1483-5065G>T
NM_001353012.1:c.1465-5065G>T	NP_001339941.1:n.1465-5065G>T
NM_020843.3:c.1867-5065G>T	NP_065894.2:n.1867-5065G>T
NR_148227.1:n.2142-5065G>T
XM_011521653.3:c.1483-5065G>T	XP_011519955.1:n.1483-5065G>T
XM_011521656.3:c.24+853G>T	XP_011519958.1:n.24+853G>T
XM_017022268.1:c.1885-5065G>T	XP_016877757.1:n.1885-5065G>T
XM_017022269.1:c.1867-5065G>T	XP_016877758.1:n.1867-5065G>T
XM_017022270.1:c.1867-5065G>T	XP_016877759.1:n.1867-5065G>T
XM_017022272.1:c.1885-5065G>T	XP_016877761.1:n.1885-5065G>T
XM_017022273.1:c.1465-5065G>T	XP_016877762.1:n.1465-5065G>T
XM_017022275.2:c.1042-5065G>T	XP_016877764.1:n.1042-5065G>T
XM_017022276.1:c.1042-5065G>T	XP_016877765.1:n.1042-5065G>T
XM_017022277.2:c.1024-5065G>T	XP_016877766.1:n.1024-5065G>T
XM_017022278.2:c.1024-5065G>T	XP_016877767.1:n.1024-5065G>T
XM_017022283.1:c.1867-5065G>T	XP_016877772.1:n.1867-5065G>T
XM_024449937.1:c.1483-5065G>T	XP_024305705.1:n.1483-5065G>T
XM_024449938.1:c.1147-5065G>T	XP_024305706.1:n.1147-5065G>T
XM_024449939.1:c.1129-5065G>T	XP_024305707.1:n.1129-5065G>T
XM_024449940.1:c.1483-5065G>T	XP_024305708.1:n.1483-5065G>T
XM_024449941.1:c.1483-5065G>T	XP_024305709.1:n.1483-5065G>T
XM_024449942.1:c.1483-5065G>T	XP_024305710.1:n.1483-5065G>T
XM_024449943.1:c.1483-5065G>T	XP_024305711.1:n.1483-5065G>T
XM_024449944.1:c.1483-5065G>T	XP_024305712.1:n.1483-5065G>T
XR_002957646.1:n.1754-5065G>T
XR_002957647.1:n.1754-5065G>T
NM_020843.4:c.1867-5065G>T MANE Select	NP_065894.2:n.1867-5065G>T
NM_001353009.2:c.1885-5065G>T	NP_001339938.1:n.1885-5065G>T
NM_001353010.2:c.1465-5065G>T	NP_001339939.1:n.1465-5065G>T
NM_001353011.2:c.1483-5065G>T	NP_001339940.1:n.1483-5065G>T
NM_001353012.2:c.1465-5065G>T	NP_001339941.1:n.1465-5065G>T
NR_148227.2:n.2025-5065G>T
NM_001145923.2:c.1129-5065G>T	NP_001139395.1:n.1129-5065G>T