Canonical Allele Identifier: CA5188036

Gene: SHOC1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.111686831C>T , CM000671.2:g.111686831C>T	GRCh38
NC_000009.11:g.114449111C>T , CM000671.1:g.114449111C>T	GRCh37
NC_000009.10:g.113488932C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682961.1:c.4466G>A MANE Select	ENSP00000508388.1:p.Arg1489His
ENST00000683944.1:c.*1492G>A	ENSP00000507813.1:n.*1492G>A
ENST00000318737.8:c.4274G>A	ENSP00000322108.4:p.Arg1425His
ENST00000374287.7:c.4274G>A	ENSP00000363405.3:p.Arg1425His
ENST00000394777.8:c.4052G>A	ENSP00000378257.4:p.Arg1351His
ENST00000394779.7:c.4157G>A	ENSP00000378259.3:p.Arg1386His
NM_001080551.2:c.4157G>A	NP_001074020.2:p.Arg1386His
NM_173521.4:c.4274G>A	NP_775792.4:p.Arg1425His
NR_109816.1:n.4499G>A
XM_006716974.2:c.4466G>A	XP_006717037.1:p.Arg1489His
XM_006716975.2:c.4361G>A	XP_006717038.1:p.Arg1454His
XM_011518302.1:c.4274G>A	XP_011516604.1:p.Arg1425His
XM_011518303.1:c.4274G>A	XP_011516605.1:p.Arg1425His
XM_011518304.1:c.4064G>A	XP_011516606.1:p.Arg1355His
XM_011518305.1:c.4046G>A	XP_011516607.1:p.Arg1349His
XM_011518306.1:c.3899G>A	XP_011516608.1:p.Arg1300His
XM_011518307.1:c.3854G>A	XP_011516609.1:p.Arg1285His
XM_011518308.1:c.3815G>A	XP_011516610.1:p.Arg1272His
XM_011518302.2:c.4274G>A	XP_011516604.1:p.Arg1425His
XM_017014340.1:c.4127G>A	XP_016869829.1:p.Arg1376His
NM_001080551.3:c.4157G>A	NP_001074020.3:p.Arg1386His
NM_173521.5:c.4274G>A	NP_775792.5:p.Arg1425His
NR_109816.2:n.4428G>A
NM_001378211.1:c.4466G>A MANE Select	NP_001365140.1:p.Arg1489His
NM_001378212.1:c.4052G>A	NP_001365141.1:p.Arg1351His