Canonical Allele Identifier: CA391931790
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38253187T>G , CM000677.2:g.38253187T>G GRCh38
NC_000015.9:g.38545388T>G , CM000677.1:g.38545388T>G GRCh37
NC_000015.8:g.36332680T>G NCBI36
NG_008980.1:g.5337T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.2T>G MANE Select ENSP00000299084.4:p.Met1Arg
ENST00000299084.8:c.2T>G ENSP00000299084.4:p.Met1Arg
ENST00000561205.1:n.340T>G
ENST00000561317.1:c.-126T>G ENSP00000453680.1:n.-126T>G
NM_152594.2:c.2T>G NP_689807.1:p.Met1Arg
XM_005254202.2:c.2T>G XP_005254259.1:p.Met1Arg
XM_005254203.3:c.-46T>G XP_005254260.1:n.-46T>G
XM_005254202.3:c.2T>G XP_005254259.1:p.Met1Arg
XR_001751484.1:n.87+380A>C
NM_152594.3:c.2T>G MANE Select NP_689807.1:p.Met1Arg