Canonical Allele Identifier: CA269282655
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 504128
ClinVar RCV Id: RCV000599218
dbSNP Id: rs755489788
gnomAD v2: 15-38545369-G-T
gnomAD v3: 15-38253168-G-T
gnomAD v4: 15-38253168-G-T
MyVariant Identifiers: chr15:g.38545369G>T (hg19) chr15:g.38253168G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38253168G>T , CM000677.2:g.38253168G>T GRCh38
NC_000015.9:g.38545369G>T , CM000677.1:g.38545369G>T GRCh37
NC_000015.8:g.36332661G>T NCBI36
NG_008980.1:g.5318G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.-18G>T MANE Select ENSP00000299084.4:n.-18G>T
ENST00000299084.8:c.-18G>T ENSP00000299084.4:n.-18G>T
ENST00000561205.1:n.321G>T
NM_152594.2:c.-18G>T NP_689807.1:n.-18G>T
XM_005254202.2:c.-18G>T XP_005254259.1:n.-18G>T
XM_005254203.3:c.-65G>T XP_005254260.1:n.-65G>T
XM_005254202.3:c.-18G>T XP_005254259.1:n.-18G>T
XR_001751484.1:n.87+399C>A
NM_152594.3:c.-18G>T MANE Select NP_689807.1:n.-18G>T
Search 100 bp 5'
Search 100 bp 3'