Canonical Allele Identifier: CA984310943

Gene: SKAP1

Linked Data

• dbSNP Id: rs2065743959
• gnomAD v3: 17-48279678-G-A
• gnomAD v4: 17-48279678-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.48279678G>A , CM000679.2:g.48279678G>A	GRCh38
NC_000017.10:g.46357040G>A , CM000679.1:g.46357040G>A	GRCh37
NC_000017.9:g.43712039G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336915.11:c.280+66227C>T MANE Select	ENSP00000338171.6:n.280+66227C>T
ENST00000336915.10:c.280+66227C>T	ENSP00000338171.6:n.280+66227C>T
ENST00000581400.2:c.101+66227C>T
ENST00000581419.1:c.62-30649C>T	ENSP00000462437.1:n.62-30649C>T
ENST00000584709.5:c.281-47776C>T	ENSP00000463284.1:n.281-47776C>T
ENST00000584924.5:c.280+66227C>T	ENSP00000464311.1:n.280+66227C>T
NM_001075099.1:c.280+66227C>T	NP_001068567.1:n.280+66227C>T
NM_003726.3:c.280+66227C>T	NP_003717.3:n.280+66227C>T
XM_005257755.2:c.280+66227C>T	XP_005257812.1:n.280+66227C>T
XM_011525408.1:c.280+66227C>T	XP_011523710.1:n.280+66227C>T
XM_011525409.1:c.280+66227C>T	XP_011523711.1:n.280+66227C>T
XM_011525410.1:c.232+66227C>T	XP_011523712.1:n.232+66227C>T
XM_011525411.1:c.280+66227C>T	XP_011523713.1:n.280+66227C>T
XM_011525412.1:c.208+66227C>T	XP_011523714.1:n.208+66227C>T
XM_011525414.1:c.-122+66227C>T	XP_011523716.1:n.-122+66227C>T
XM_011525415.1:c.-3+64579C>T	XP_011523717.1:n.-3+64579C>T
XM_005257755.4:c.280+66227C>T	XP_005257812.1:n.280+66227C>T
XM_017025257.2:c.208+66227C>T	XP_016880746.1:n.208+66227C>T
XM_017025259.1:c.-122+66227C>T	XP_016880748.1:n.-122+66227C>T
XM_024451012.1:c.223+66227C>T	XP_024306780.1:n.223+66227C>T
NM_003726.4:c.280+66227C>T MANE Select	NP_003717.3:n.280+66227C>T
NM_001075099.2:c.280+66227C>T	NP_001068567.1:n.280+66227C>T