Canonical Allele Identifier: CA391932784
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38349430T>A , CM000677.2:g.38349430T>A GRCh38
NC_000015.9:g.38641631T>A , CM000677.1:g.38641631T>A GRCh37
NC_000015.8:g.36428923T>A NCBI36
NG_008980.1:g.101580T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.591T>A MANE Select ENSP00000299084.4:p.Phe197Leu
ENST00000299084.8:c.591T>A ENSP00000299084.4:p.Phe197Leu
NM_152594.2:c.591T>A NP_689807.1:p.Phe197Leu
XM_005254202.2:c.627T>A XP_005254259.1:p.Phe209Leu
XM_005254203.3:c.369T>A XP_005254260.1:p.Phe123Leu
XM_011521288.1:c.528T>A XP_011519590.1:p.Phe176Leu
XM_011521289.1:c.528T>A XP_011519591.1:p.Phe176Leu
XM_011521290.1:c.528T>A XP_011519592.1:p.Phe176Leu
XM_005254202.3:c.627T>A XP_005254259.1:p.Phe209Leu
XM_011521289.3:c.528T>A XP_011519591.1:p.Phe176Leu
NM_152594.3:c.591T>A MANE Select NP_689807.1:p.Phe197Leu