Canonical Allele Identifier: CA490012515

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1743347
• ClinVar RCV Id: RCV003096485 ; RCV002338011
• dbSNP Id: rs1888488292
• MyVariant Identifiers: chr15:g.38643715T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351514T>G , CM000677.2:g.38351514T>G	GRCh38
NC_000015.9:g.38643715T>G , CM000677.1:g.38643715T>G	GRCh37
NC_000015.8:g.36431007T>G	NCBI36
NG_008980.1:g.103664T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1185T>G MANE Select	ENSP00000299084.4:p.Thr395=
ENST00000299084.8:c.1185T>G	ENSP00000299084.4:p.Thr395=
NM_152594.2:c.1185T>G	NP_689807.1:p.Thr395=
XM_005254202.2:c.1221T>G	XP_005254259.1:p.Thr407=
XM_005254203.3:c.963T>G	XP_005254260.1:p.Thr321=
XM_011521288.1:c.1122T>G	XP_011519590.1:p.Thr374=
XM_011521289.1:c.1122T>G	XP_011519591.1:p.Thr374=
XM_011521290.1:c.1122T>G	XP_011519592.1:p.Thr374=
XM_005254202.3:c.1221T>G	XP_005254259.1:p.Thr407=
XM_011521289.3:c.1122T>G	XP_011519591.1:p.Thr374=
NM_152594.3:c.1185T>G MANE Select	NP_689807.1:p.Thr395=