Canonical Allele Identifier: CA2170765857
Gene: SPRED1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38253219T= , CM000677.2:g.38253219T= GRCh38
NC_000015.9:g.38545420T= , CM000677.1:g.38545420T= GRCh37
NC_000015.8:g.36332712T= NCBI36
NG_008980.1:g.5369T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.32+2T= MANE Select ENSP00000299084.4:n.32+2T=
ENST00000299084.8:c.32+2T= ENSP00000299084.4:n.32+2T=
ENST00000561205.1:n.370+2T=
ENST00000561317.1:c.-96+2T= ENSP00000453680.1:n.-96+2T=
NM_152594.2:c.32+2T= NP_689807.1:n.32+2T=
XM_005254202.2:c.32+2T= XP_005254259.1:n.32+2T=
XM_005254203.3:c.-16+2T= XP_005254260.1:n.-16+2T=
XM_005254202.3:c.32+2T= XP_005254259.1:n.32+2T=
XR_001751484.1:n.87+348A=
NM_152594.3:c.32+2T= MANE Select NP_689807.1:n.32+2T=