Canonical Allele Identifier: CA391933029
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351024A>T , CM000677.2:g.38351024A>T GRCh38
NC_000015.9:g.38643225A>T , CM000677.1:g.38643225A>T GRCh37
NC_000015.8:g.36430517A>T NCBI36
NG_008980.1:g.103174A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.695A>T MANE Select ENSP00000299084.4:p.Lys232Ile
ENST00000299084.8:c.695A>T ENSP00000299084.4:p.Lys232Ile
NM_152594.2:c.695A>T NP_689807.1:p.Lys232Ile
XM_005254202.2:c.731A>T XP_005254259.1:p.Lys244Ile
XM_005254203.3:c.473A>T XP_005254260.1:p.Lys158Ile
XM_011521288.1:c.632A>T XP_011519590.1:p.Lys211Ile
XM_011521289.1:c.632A>T XP_011519591.1:p.Lys211Ile
XM_011521290.1:c.632A>T XP_011519592.1:p.Lys211Ile
XM_005254202.3:c.731A>T XP_005254259.1:p.Lys244Ile
XM_011521289.3:c.632A>T XP_011519591.1:p.Lys211Ile
NM_152594.3:c.695A>T MANE Select NP_689807.1:p.Lys232Ile