Canonical Allele Identifier: CA269282657
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1334303
ClinVar RCV Id: RCV001813718 RCV002440889
dbSNP Id: rs773950720
gnomAD v2: 15-38545385-A-T
gnomAD v3: 15-38253184-A-T
gnomAD v4: 15-38253184-A-T
MyVariant Identifiers: chr15:g.38545385A>T (hg19) chr15:g.38253184A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38253184A>T , CM000677.2:g.38253184A>T GRCh38
NC_000015.9:g.38545385A>T , CM000677.1:g.38545385A>T GRCh37
NC_000015.8:g.36332677A>T NCBI36
NG_008980.1:g.5334A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.-2A>T MANE Select ENSP00000299084.4:n.-2A>T
ENST00000299084.8:c.-2A>T ENSP00000299084.4:n.-2A>T
ENST00000561205.1:n.337A>T
ENST00000561317.1:c.-129A>T ENSP00000453680.1:n.-129A>T
NM_152594.2:c.-2A>T NP_689807.1:n.-2A>T
XM_005254202.2:c.-2A>T XP_005254259.1:n.-2A>T
XM_005254203.3:c.-49A>T XP_005254260.1:n.-49A>T
XM_005254202.3:c.-2A>T XP_005254259.1:n.-2A>T
XR_001751484.1:n.87+383T>A
NM_152594.3:c.-2A>T MANE Select NP_689807.1:n.-2A>T
Search 100 bp 5'
Search 100 bp 3'