Canonical Allele Identifier: CA1709008
Gene: SPR HGNC NCBI

Linked Data

ClinVar Variation Id: 239510
dbSNP Id: rs200845457
gnomAD v2: 2-73118508-C-T
gnomAD v3: 2-72891379-C-T
gnomAD v4: 2-72891379-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72891379C>T , CM000664.2:g.72891379C>T GRCh38
NC_000002.11:g.73118508C>T , CM000664.1:g.73118508C>T GRCh37
NC_000002.10:g.72972016C>T NCBI36
NG_008234.1:g.8997C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.628C>T MANE Select ENSP00000234454.5:p.Arg210Trp
ENST00000234454.5:c.628C>T ENSP00000234454.5:p.Arg210Trp
ENST00000498749.1:n.573C>T
NM_003124.4:c.628C>T NP_003115.1:p.Arg210Trp
NM_003124.5:c.628C>T MANE Select NP_003115.1:p.Arg210Trp