Canonical Allele Identifier: CA10603437
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 280174
ClinVar RCV Id: RCV000343889 RCV001238249 RCV004021063
dbSNP Id: rs886041428
gnomAD v2: 15-38643337-T-G
gnomAD v3: 15-38351136-T-G
gnomAD v4: 15-38351136-T-G
MyVariant Identifiers: chr15:g.38643337T>G (hg19) chr15:g.38351136T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351136T>G , CM000677.2:g.38351136T>G GRCh38
NC_000015.9:g.38643337T>G , CM000677.1:g.38643337T>G GRCh37
NC_000015.8:g.36430629T>G NCBI36
NG_008980.1:g.103286T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.807T>G MANE Select ENSP00000299084.4:p.Asn269Lys
ENST00000299084.8:c.807T>G ENSP00000299084.4:p.Asn269Lys
NM_152594.2:c.807T>G NP_689807.1:p.Asn269Lys
XM_005254202.2:c.843T>G XP_005254259.1:p.Asn281Lys
XM_005254203.3:c.585T>G XP_005254260.1:p.Asn195Lys
XM_011521288.1:c.744T>G XP_011519590.1:p.Asn248Lys
XM_011521289.1:c.744T>G XP_011519591.1:p.Asn248Lys
XM_011521290.1:c.744T>G XP_011519592.1:p.Asn248Lys
XM_005254202.3:c.843T>G XP_005254259.1:p.Asn281Lys
XM_011521289.3:c.744T>G XP_011519591.1:p.Asn248Lys
NM_152594.3:c.807T>G MANE Select NP_689807.1:p.Asn269Lys
Search 100 bp 5'
Search 100 bp 3'