Canonical Allele Identifier: CA7470192
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1517921
ClinVar RCV Id: RCV002041211
dbSNP Id: rs777379558

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351193A>C , CM000677.2:g.38351193A>C GRCh38
NC_000015.9:g.38643394A>C , CM000677.1:g.38643394A>C GRCh37
NC_000015.8:g.36430686A>C NCBI36
NG_008980.1:g.103343A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.864A>C MANE Select ENSP00000299084.4:p.Lys288Asn
ENST00000299084.8:c.864A>C ENSP00000299084.4:p.Lys288Asn
NM_152594.2:c.864A>C NP_689807.1:p.Lys288Asn
XM_005254202.2:c.900A>C XP_005254259.1:p.Lys300Asn
XM_005254203.3:c.642A>C XP_005254260.1:p.Lys214Asn
XM_011521288.1:c.801A>C XP_011519590.1:p.Lys267Asn
XM_011521289.1:c.801A>C XP_011519591.1:p.Lys267Asn
XM_011521290.1:c.801A>C XP_011519592.1:p.Lys267Asn
XM_005254202.3:c.900A>C XP_005254259.1:p.Lys300Asn
XM_011521289.3:c.801A>C XP_011519591.1:p.Lys267Asn
NM_152594.3:c.864A>C MANE Select NP_689807.1:p.Lys288Asn