Canonical Allele Identifier: CA393638652

Gene: SCAPER

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.76857880C>T , CM000677.2:g.76857880C>T	GRCh38
NC_000015.9:g.77150221C>T , CM000677.1:g.77150221C>T	GRCh37
NC_000015.8:g.74937276C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_020843.4:c.125-1G>A MANE Select	NP_065894.2:n.125-1G>A
ENST00000563290.6:c.125-1G>A MANE Select	ENSP00000454973.1:n.125-1G>A
NM_001145923.1:c.-840-1G>A	NP_001139395.1:n.-840-1G>A
NM_001145923.2:c.-840-1G>A	NP_001139395.1:n.-840-1G>A
NM_001353009.1:c.125-1G>A	NP_001339938.1:n.125-1G>A
NM_001353009.2:c.125-1G>A	NP_001339938.1:n.125-1G>A
NM_001353010.1:c.-333-1G>A	NP_001339939.1:n.-333-1G>A
NM_001353010.2:c.-333-1G>A	NP_001339939.1:n.-333-1G>A
NM_001353011.1:c.-396-1G>A	NP_001339940.1:n.-396-1G>A
NM_001353011.2:c.-396-1G>A	NP_001339940.1:n.-396-1G>A
NM_001353012.1:c.-278-1G>A	NP_001339941.1:n.-278-1G>A
NM_001353012.2:c.-278-1G>A	NP_001339941.1:n.-278-1G>A
NM_020843.2:c.125-1G>A	NP_065894.2:n.125-1G>A
NM_020843.3:c.125-1G>A	NP_065894.2:n.125-1G>A
NR_148227.1:n.343-1G>A
NR_148227.2:n.226-1G>A
ENST00000303521.10:n.171-1G>A
ENST00000324767.11:c.125-1G>A	ENSP00000326924.7:n.125-1G>A
ENST00000538941.6:c.-840-1G>A	ENSP00000442190.2:n.-840-1G>A
ENST00000563290.5:c.125-1G>A	ENSP00000454973.1:n.125-1G>A
ENST00000563919.1:c.125-1G>A	ENSP00000455231.1:n.125-1G>A
ENST00000564177.1:c.-278-1G>A	ENSP00000457382.1:n.-278-1G>A
ENST00000564590.5:c.125-1G>A	ENSP00000456508.1:n.125-1G>A
ENST00000565372.5:c.125-1G>A	ENSP00000455751.1:n.125-1G>A
ENST00000565507.5:c.125-1G>A	ENSP00000455623.1:n.125-1G>A
ENST00000565970.5:c.125-1G>A	ENSP00000455378.1:n.125-1G>A
ENST00000568382.5:c.-80-1G>A	ENSP00000456065.1:n.-80-1G>A
XM_005254417.2:c.125-1G>A	XP_005254474.1:n.125-1G>A
XM_005254419.2:c.125-1G>A	XP_005254476.1:n.125-1G>A
XM_011521648.1:c.281-1G>A	XP_011519950.1:n.281-1G>A
XM_011521649.1:c.281-1G>A	XP_011519951.1:n.281-1G>A
XM_011521650.1:c.125-1G>A	XP_011519952.1:n.125-1G>A
XM_011521651.1:c.281-1G>A	XP_011519953.1:n.281-1G>A
XM_011521652.1:c.77-1G>A	XP_011519954.1:n.77-1G>A
XM_011521653.1:c.-278-1G>A	XP_011519955.1:n.-278-1G>A
XM_011521653.3:c.-278-1G>A	XP_011519955.1:n.-278-1G>A
XM_011521655.1:c.281-1G>A	XP_011519957.1:n.281-1G>A
XM_017022268.1:c.125-1G>A	XP_016877757.1:n.125-1G>A
XM_017022269.1:c.125-1G>A	XP_016877758.1:n.125-1G>A
XM_017022270.1:c.125-1G>A	XP_016877759.1:n.125-1G>A
XM_017022272.1:c.125-1G>A	XP_016877761.1:n.125-1G>A
XM_017022273.1:c.-278-1G>A	XP_016877762.1:n.-278-1G>A
XM_017022275.2:c.-558-1G>A	XP_016877764.1:n.-558-1G>A
XM_017022277.2:c.-558-1G>A	XP_016877766.1:n.-558-1G>A
XM_017022278.2:c.-558-1G>A	XP_016877767.1:n.-558-1G>A
XM_017022283.1:c.125-1G>A	XP_016877772.1:n.125-1G>A
XM_024449938.1:c.-773-1G>A	XP_024305706.1:n.-773-1G>A
XM_024449939.1:c.-773-1G>A	XP_024305707.1:n.-773-1G>A