Canonical Allele Identifier: CA391933177

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1759658
• ClinVar RCV Id: RCV002394158 ; RCV003103420
• dbSNP Id: rs1187107780
• MyVariant Identifiers: chr15:g.38643288T>G (hg19) ; chr15:g.38351087T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351087T>G , CM000677.2:g.38351087T>G	GRCh38
NC_000015.9:g.38643288T>G , CM000677.1:g.38643288T>G	GRCh37
NC_000015.8:g.36430580T>G	NCBI36
NG_008980.1:g.103237T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.758T>G MANE Select	ENSP00000299084.4:p.Ile253Ser
ENST00000299084.8:c.758T>G	ENSP00000299084.4:p.Ile253Ser
NM_152594.2:c.758T>G	NP_689807.1:p.Ile253Ser
XM_005254202.2:c.794T>G	XP_005254259.1:p.Ile265Ser
XM_005254203.3:c.536T>G	XP_005254260.1:p.Ile179Ser
XM_011521288.1:c.695T>G	XP_011519590.1:p.Ile232Ser
XM_011521289.1:c.695T>G	XP_011519591.1:p.Ile232Ser
XM_011521290.1:c.695T>G	XP_011519592.1:p.Ile232Ser
XM_005254202.3:c.794T>G	XP_005254259.1:p.Ile265Ser
XM_011521289.3:c.695T>G	XP_011519591.1:p.Ile232Ser
NM_152594.3:c.758T>G MANE Select	NP_689807.1:p.Ile253Ser