Canonical Allele Identifier: CA269293278
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1360401
ClinVar RCV Id: RCV001864941 RCV002361104
dbSNP Id: rs144227155
gnomAD v2: 15-38641685-A-C
gnomAD v3: 15-38349484-A-C
gnomAD v4: 15-38349484-A-C
MyVariant Identifiers: chr15:g.38641685A>C (hg19) chr15:g.38349484A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38349484A>C , CM000677.2:g.38349484A>C GRCh38
NC_000015.9:g.38641685A>C , CM000677.1:g.38641685A>C GRCh37
NC_000015.8:g.36428977A>C NCBI36
NG_008980.1:g.101634A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.645A>C MANE Select ENSP00000299084.4:p.Gln215His
ENST00000299084.8:c.645A>C ENSP00000299084.4:p.Gln215His
NM_152594.2:c.645A>C NP_689807.1:p.Gln215His
XM_005254202.2:c.681A>C XP_005254259.1:p.Gln227His
XM_005254203.3:c.423A>C XP_005254260.1:p.Gln141His
XM_011521288.1:c.582A>C XP_011519590.1:p.Gln194His
XM_011521289.1:c.582A>C XP_011519591.1:p.Gln194His
XM_011521290.1:c.582A>C XP_011519592.1:p.Gln194His
XM_005254202.3:c.681A>C XP_005254259.1:p.Gln227His
XM_011521289.3:c.582A>C XP_011519591.1:p.Gln194His
NM_152594.3:c.645A>C MANE Select NP_689807.1:p.Gln215His
Search 100 bp 5'
Search 100 bp 3'