Canonical Allele Identifier: CA489921685
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2059176
ClinVar RCV Id: RCV002933599
dbSNP Id: rs1220734936
gnomAD v2: 15-38545407-T-A
gnomAD v4: 15-38253206-T-A
MyVariant Identifiers: chr15:g.38545407T>A (hg19) chr15:g.38253206T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38253206T>A , CM000677.2:g.38253206T>A GRCh38
NC_000015.9:g.38545407T>A , CM000677.1:g.38545407T>A GRCh37
NC_000015.8:g.36332699T>A NCBI36
NG_008980.1:g.5356T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.21T>A MANE Select ENSP00000299084.4:p.Thr7=
ENST00000299084.8:c.21T>A ENSP00000299084.4:p.Thr7=
ENST00000561205.1:n.359T>A
ENST00000561317.1:c.-107T>A ENSP00000453680.1:n.-107T>A
NM_152594.2:c.21T>A NP_689807.1:p.Thr7=
XM_005254202.2:c.21T>A XP_005254259.1:p.Thr7=
XM_005254203.3:c.-27T>A XP_005254260.1:n.-27T>A
XM_005254202.3:c.21T>A XP_005254259.1:p.Thr7=
XR_001751484.1:n.87+361A>T
NM_152594.3:c.21T>A MANE Select NP_689807.1:p.Thr7=
Search 100 bp 5'
Search 100 bp 3'