Canonical Allele Identifier: CA391933183
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351090T>G , CM000677.2:g.38351090T>G GRCh38
NC_000015.9:g.38643291T>G , CM000677.1:g.38643291T>G GRCh37
NC_000015.8:g.36430583T>G NCBI36
NG_008980.1:g.103240T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.761T>G MANE Select ENSP00000299084.4:p.Leu254Ter
ENST00000299084.8:c.761T>G ENSP00000299084.4:p.Leu254Ter
NM_152594.2:c.761T>G NP_689807.1:p.Leu254Ter
XM_005254202.2:c.797T>G XP_005254259.1:p.Leu266Ter
XM_005254203.3:c.539T>G XP_005254260.1:p.Leu180Ter
XM_011521288.1:c.698T>G XP_011519590.1:p.Leu233Ter
XM_011521289.1:c.698T>G XP_011519591.1:p.Leu233Ter
XM_011521290.1:c.698T>G XP_011519592.1:p.Leu233Ter
XM_005254202.3:c.797T>G XP_005254259.1:p.Leu266Ter
XM_011521289.3:c.698T>G XP_011519591.1:p.Leu233Ter
NM_152594.3:c.761T>G MANE Select NP_689807.1:p.Leu254Ter