Canonical Allele Identifier: CA391933818
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351353T>A , CM000677.2:g.38351353T>A GRCh38
NC_000015.9:g.38643554T>A , CM000677.1:g.38643554T>A GRCh37
NC_000015.8:g.36430846T>A NCBI36
NG_008980.1:g.103503T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1024T>A MANE Select ENSP00000299084.4:p.Phe342Ile
ENST00000299084.8:c.1024T>A ENSP00000299084.4:p.Phe342Ile
NM_152594.2:c.1024T>A NP_689807.1:p.Phe342Ile
XM_005254202.2:c.1060T>A XP_005254259.1:p.Phe354Ile
XM_005254203.3:c.802T>A XP_005254260.1:p.Phe268Ile
XM_011521288.1:c.961T>A XP_011519590.1:p.Phe321Ile
XM_011521289.1:c.961T>A XP_011519591.1:p.Phe321Ile
XM_011521290.1:c.961T>A XP_011519592.1:p.Phe321Ile
XM_005254202.3:c.1060T>A XP_005254259.1:p.Phe354Ile
XM_011521289.3:c.961T>A XP_011519591.1:p.Phe321Ile
NM_152594.3:c.1024T>A MANE Select NP_689807.1:p.Phe342Ile