Canonical Allele Identifier: CA7470194
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1476804
ClinVar RCV Id: RCV001978126
dbSNP Id: rs372665535
ExAC: 15:38643396 A / C
gnomAD v2: 15-38643396-A-C
gnomAD v3: 15-38351195-A-C
gnomAD v4: 15-38351195-A-C
MyVariant Identifiers: chr15:g.38643396A>C (hg19) chr15:g.38351195A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351195A>C , CM000677.2:g.38351195A>C GRCh38
NC_000015.9:g.38643396A>C , CM000677.1:g.38643396A>C GRCh37
NC_000015.8:g.36430688A>C NCBI36
NG_008980.1:g.103345A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.866A>C MANE Select ENSP00000299084.4:p.Lys289Thr
ENST00000299084.8:c.866A>C ENSP00000299084.4:p.Lys289Thr
NM_152594.2:c.866A>C NP_689807.1:p.Lys289Thr
XM_005254202.2:c.902A>C XP_005254259.1:p.Lys301Thr
XM_005254203.3:c.644A>C XP_005254260.1:p.Lys215Thr
XM_011521288.1:c.803A>C XP_011519590.1:p.Lys268Thr
XM_011521289.1:c.803A>C XP_011519591.1:p.Lys268Thr
XM_011521290.1:c.803A>C XP_011519592.1:p.Lys268Thr
XM_005254202.3:c.902A>C XP_005254259.1:p.Lys301Thr
XM_011521289.3:c.803A>C XP_011519591.1:p.Lys268Thr
NM_152594.3:c.866A>C MANE Select NP_689807.1:p.Lys289Thr
Search 100 bp 5'
Search 100 bp 3'