Canonical Allele Identifier: CA391931835
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2997217
ClinVar RCV Id: RCV003851336
dbSNP Id: rs1319028012
gnomAD v2: 15-38545406-C-T
gnomAD v4: 15-38253205-C-T
MyVariant Identifiers: chr15:g.38545406C>T (hg19) chr15:g.38253205C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38253205C>T , CM000677.2:g.38253205C>T GRCh38
NC_000015.9:g.38545406C>T , CM000677.1:g.38545406C>T GRCh37
NC_000015.8:g.36332698C>T NCBI36
NG_008980.1:g.5355C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.20C>T MANE Select ENSP00000299084.4:p.Thr7Ile
ENST00000299084.8:c.20C>T ENSP00000299084.4:p.Thr7Ile
ENST00000561205.1:n.358C>T
ENST00000561317.1:c.-108C>T ENSP00000453680.1:n.-108C>T
NM_152594.2:c.20C>T NP_689807.1:p.Thr7Ile
XM_005254202.2:c.20C>T XP_005254259.1:p.Thr7Ile
XM_005254203.3:c.-28C>T XP_005254260.1:n.-28C>T
XM_005254202.3:c.20C>T XP_005254259.1:p.Thr7Ile
XR_001751484.1:n.87+362G>A
NM_152594.3:c.20C>T MANE Select NP_689807.1:p.Thr7Ile
Search 100 bp 5'
Search 100 bp 3'