Canonical Allele Identifier: CA359428607

Gene: CAPSL

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35909940C>G , CM000667.2:g.35909940C>G	GRCh38
NC_000005.9:g.35910042C>G , CM000667.1:g.35910042C>G	GRCh37
NC_000005.8:g.35945799C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651391.1:c.451G>C MANE Select	ENSP00000498465.1:p.Gly151Arg
ENST00000397366.5:c.451G>C	ENSP00000380523.1:p.Gly151Arg
ENST00000397367.6:c.451G>C	ENSP00000380524.2:p.Gly151Arg
ENST00000513623.5:c.451G>C	ENSP00000424806.1:p.Gly151Arg
ENST00000514524.2:c.451G>C	ENSP00000421018.1:p.Gly151Arg
NM_001042625.1:c.451G>C	NP_001036090.1:p.Gly151Arg
NM_144647.3:c.451G>C	NP_653248.3:p.Gly151Arg
XM_006714444.2:c.502G>C	XP_006714507.1:p.Gly168Arg
XM_006714445.2:c.502G>C	XP_006714508.1:p.Gly168Arg
XM_006714444.3:c.502G>C	XP_006714507.1:p.Gly168Arg
XM_006714445.3:c.502G>C	XP_006714508.1:p.Gly168Arg
NM_001042625.2:c.451G>C MANE Select	NP_001036090.1:p.Gly151Arg
NM_144647.4:c.451G>C	NP_653248.3:p.Gly151Arg