Canonical Allele Identifier: CA391934663
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351570T>A , CM000677.2:g.38351570T>A GRCh38
NC_000015.9:g.38643771T>A , CM000677.1:g.38643771T>A GRCh37
NC_000015.8:g.36431063T>A NCBI36
NG_008980.1:g.103720T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1241T>A MANE Select ENSP00000299084.4:p.Val414Glu
ENST00000299084.8:c.1241T>A ENSP00000299084.4:p.Val414Glu
NM_152594.2:c.1241T>A NP_689807.1:p.Val414Glu
XM_005254202.2:c.1277T>A XP_005254259.1:p.Val426Glu
XM_005254203.3:c.1019T>A XP_005254260.1:p.Val340Glu
XM_011521288.1:c.1178T>A XP_011519590.1:p.Val393Glu
XM_011521289.1:c.1178T>A XP_011519591.1:p.Val393Glu
XM_011521290.1:c.1178T>A XP_011519592.1:p.Val393Glu
XM_005254202.3:c.1277T>A XP_005254259.1:p.Val426Glu
XM_011521289.3:c.1178T>A XP_011519591.1:p.Val393Glu
NM_152594.3:c.1241T>A MANE Select NP_689807.1:p.Val414Glu