Canonical Allele Identifier: CA490012387
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2900213
ClinVar RCV Id: RCV003601101
MyVariant Identifiers: chr15:g.38643523A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351322A>G , CM000677.2:g.38351322A>G GRCh38
NC_000015.9:g.38643523A>G , CM000677.1:g.38643523A>G GRCh37
NC_000015.8:g.36430815A>G NCBI36
NG_008980.1:g.103472A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.993A>G MANE Select ENSP00000299084.4:p.Glu331=
ENST00000299084.8:c.993A>G ENSP00000299084.4:p.Glu331=
NM_152594.2:c.993A>G NP_689807.1:p.Glu331=
XM_005254202.2:c.1029A>G XP_005254259.1:p.Glu343=
XM_005254203.3:c.771A>G XP_005254260.1:p.Glu257=
XM_011521288.1:c.930A>G XP_011519590.1:p.Glu310=
XM_011521289.1:c.930A>G XP_011519591.1:p.Glu310=
XM_011521290.1:c.930A>G XP_011519592.1:p.Glu310=
XM_005254202.3:c.1029A>G XP_005254259.1:p.Glu343=
XM_011521289.3:c.930A>G XP_011519591.1:p.Glu310=
NM_152594.3:c.993A>G MANE Select NP_689807.1:p.Glu331=