Canonical Allele Identifier: CA410528241

Gene: SPATC1L

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46161921C>G , CM000683.2:g.46161921C>G	GRCh38
NC_000021.8:g.47581835C>G , CM000683.1:g.47581835C>G	GRCh37
NC_000021.7:g.46406263C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001142854.2:c.691G>C MANE Select	NP_001136326.1:p.Glu231Gln
ENST00000291672.6:c.691G>C MANE Select	ENSP00000291672.5:p.Glu231Gln
NM_001142854.1:c.691G>C	NP_001136326.1:p.Glu231Gln
NM_032261.4:c.229G>C	NP_115637.3:p.Glu77Gln
NM_032261.5:c.229G>C	NP_115637.3:p.Glu77Gln
ENST00000291672.5:c.691G>C	ENSP00000291672.5:p.Glu231Gln
ENST00000330205.10:c.229G>C	ENSP00000333869.6:p.Glu77Gln
XM_005261188.3:c.691G>C	XP_005261245.1:p.Glu231Gln
XM_005261188.5:c.691G>C	XP_005261245.1:p.Glu231Gln
XM_011529756.1:c.349G>C	XP_011528058.1:p.Glu117Gln
XM_011529756.2:c.349G>C	XP_011528058.1:p.Glu117Gln
XM_017028480.2:c.691G>C	XP_016883969.1:p.Glu231Gln