Canonical Allele Identifier: CA7470238
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1743455
ClinVar RCV Id: RCV002338100
dbSNP Id: rs769959530
ExAC: 15:38643716 A / G
gnomAD v2: 15-38643716-A-G
gnomAD v3: 15-38351515-A-G
gnomAD v4: 15-38351515-A-G
MyVariant Identifiers: chr15:g.38643716A>G (hg19) chr15:g.38351515A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351515A>G , CM000677.2:g.38351515A>G GRCh38
NC_000015.9:g.38643716A>G , CM000677.1:g.38643716A>G GRCh37
NC_000015.8:g.36431008A>G NCBI36
NG_008980.1:g.103665A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1186A>G MANE Select ENSP00000299084.4:p.Ser396Gly
ENST00000299084.8:c.1186A>G ENSP00000299084.4:p.Ser396Gly
NM_152594.2:c.1186A>G NP_689807.1:p.Ser396Gly
XM_005254202.2:c.1222A>G XP_005254259.1:p.Ser408Gly
XM_005254203.3:c.964A>G XP_005254260.1:p.Ser322Gly
XM_011521288.1:c.1123A>G XP_011519590.1:p.Ser375Gly
XM_011521289.1:c.1123A>G XP_011519591.1:p.Ser375Gly
XM_011521290.1:c.1123A>G XP_011519592.1:p.Ser375Gly
XM_005254202.3:c.1222A>G XP_005254259.1:p.Ser408Gly
XM_011521289.3:c.1123A>G XP_011519591.1:p.Ser375Gly
NM_152594.3:c.1186A>G MANE Select NP_689807.1:p.Ser396Gly
Search 100 bp 5'
Search 100 bp 3'