Canonical Allele Identifier: CA2509048459
Gene: SPRED1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38299732C>A , CM000677.2:g.38299732C>A GRCh38
NC_000015.9:g.38591933C>A , CM000677.1:g.38591933C>A GRCh37
NC_000015.8:g.36379225C>A NCBI36
NG_008980.1:g.51882C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.207+185C>A MANE Select ENSP00000299084.4:n.207+185C>A
ENST00000299084.8:c.207+185C>A ENSP00000299084.4:n.207+185C>A
ENST00000561205.1:n.545+185C>A
ENST00000561317.1:c.144+185C>A ENSP00000453680.1:n.144+185C>A
NM_152594.2:c.207+185C>A NP_689807.1:n.207+185C>A
XM_005254202.2:c.243+185C>A XP_005254259.1:n.243+185C>A
XM_005254203.3:c.-15-22509C>A XP_005254260.1:n.-15-22509C>A
XM_011521288.1:c.144+185C>A XP_011519590.1:n.144+185C>A
XM_011521289.1:c.144+185C>A XP_011519591.1:n.144+185C>A
XM_011521290.1:c.144+185C>A XP_011519592.1:n.144+185C>A
XM_005254202.3:c.243+185C>A XP_005254259.1:n.243+185C>A
XM_011521289.3:c.144+185C>A XP_011519591.1:n.144+185C>A
NM_152594.3:c.207+185C>A MANE Select NP_689807.1:n.207+185C>A