Canonical Allele Identifier: CA122794
Gene: SPR HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.72888497C>T
GRCh37 chr2:g.73115626C>T
Revel Score:
ENST00000234454 (MANE Select) 0.959
gnomAD v4:
chr2-72888497-C-T
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000013806
ClinVar Variation:
12943
dbSNP:
104893666
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72888497C>T , CM000664.2:g.72888497C>T GRCh38
NC_000002.11:g.73115626C>T , CM000664.1:g.73115626C>T GRCh37
NC_000002.10:g.72969134C>T NCBI36
NG_008234.1:g.6115C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.488C>T MANE Select ENSP00000234454.5:p.Pro163Leu
ENST00000234454.5:c.488C>T ENSP00000234454.5:p.Pro163Leu
ENST00000498749.1:n.433C>T
NM_003124.4:c.488C>T NP_003115.1:p.Pro163Leu
NM_003124.5:c.488C>T MANE Select NP_003115.1:p.Pro163Leu
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