Canonical Allele Identifier: CA490012576
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1634052
ClinVar RCV Id: RCV002130552
dbSNP Id: rs1888489718
MyVariant Identifiers: chr15:g.38643754A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351553A>G , CM000677.2:g.38351553A>G GRCh38
NC_000015.9:g.38643754A>G , CM000677.1:g.38643754A>G GRCh37
NC_000015.8:g.36431046A>G NCBI36
NG_008980.1:g.103703A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1224A>G MANE Select ENSP00000299084.4:p.Val408=
ENST00000299084.8:c.1224A>G ENSP00000299084.4:p.Val408=
NM_152594.2:c.1224A>G NP_689807.1:p.Val408=
XM_005254202.2:c.1260A>G XP_005254259.1:p.Val420=
XM_005254203.3:c.1002A>G XP_005254260.1:p.Val334=
XM_011521288.1:c.1161A>G XP_011519590.1:p.Val387=
XM_011521289.1:c.1161A>G XP_011519591.1:p.Val387=
XM_011521290.1:c.1161A>G XP_011519592.1:p.Val387=
XM_005254202.3:c.1260A>G XP_005254259.1:p.Val420=
XM_011521289.3:c.1161A>G XP_011519591.1:p.Val387=
NM_152594.3:c.1224A>G MANE Select NP_689807.1:p.Val408=