Canonical Allele Identifier: CA359429872

Gene: CAPSL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35910427C>G , CM000667.2:g.35910427C>G	GRCh38
NC_000005.9:g.35910529C>G , CM000667.1:g.35910529C>G	GRCh37
NC_000005.8:g.35946286C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001042625.2:c.254G>C MANE Select	NP_001036090.1:p.Arg85Pro
ENST00000651391.1:c.254G>C MANE Select	ENSP00000498465.1:p.Arg85Pro
NM_001042625.1:c.254G>C	NP_001036090.1:p.Arg85Pro
NM_144647.3:c.254G>C	NP_653248.3:p.Arg85Pro
NM_144647.4:c.254G>C	NP_653248.3:p.Arg85Pro
ENST00000397366.5:c.254G>C	ENSP00000380523.1:p.Arg85Pro
ENST00000397367.6:c.254G>C	ENSP00000380524.2:p.Arg85Pro
ENST00000513623.5:c.254G>C	ENSP00000424806.1:p.Arg85Pro
ENST00000514524.2:c.254G>C	ENSP00000421018.1:p.Arg85Pro
XM_006714444.2:c.305G>C	XP_006714507.1:p.Arg102Pro
XM_006714444.3:c.305G>C	XP_006714507.1:p.Arg102Pro
XM_006714445.2:c.305G>C	XP_006714508.1:p.Arg102Pro
XM_006714445.3:c.305G>C	XP_006714508.1:p.Arg102Pro