Canonical Allele Identifier: CA1021493

Gene: SIKE1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114776425A>G , CM000663.2:g.114776425A>G	GRCh38
NC_000001.10:g.115319046A>G , CM000663.1:g.115319046A>G	GRCh37
NC_000001.9:g.115120569A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_025073.3:c.443T>C MANE Select	NP_079349.2:p.Met148Thr
ENST00000060969.6:c.443T>C MANE Select	ENSP00000060969.6:p.Met148Thr
NM_001102396.1:c.455T>C	NP_001095866.1:p.Met152Thr
NM_001102396.2:c.455T>C	NP_001095866.1:p.Met152Thr
NM_025073.2:c.443T>C	NP_079349.2:p.Met148Thr
NR_049741.1:n.585T>C
NR_049741.2:n.583T>C
NR_049742.1:n.417T>C
NR_049742.2:n.415T>C
ENST00000060969.5:c.443T>C	ENSP00000060969.5:p.Met148Thr
ENST00000369524.5:n.225-2053T>C
ENST00000369528.9:c.455T>C	ENSP00000358541.5:p.Met152Thr
ENST00000506320.1:n.464T>C
ENST00000510745.5:n.242T>C