Canonical Allele Identifier: CA391934549

Gene: SPRED1

Linked Data

• dbSNP Id: rs1895111937
• MyVariant Identifiers: chr15:g.38591734C>T (hg19) ; chr15:g.38299533C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38299533C>T , CM000677.2:g.38299533C>T	GRCh38
NC_000015.9:g.38591734C>T , CM000677.1:g.38591734C>T	GRCh37
NC_000015.8:g.36379026C>T	NCBI36
NG_008980.1:g.51683C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.193C>T MANE Select	ENSP00000299084.4:p.Leu65Phe
ENST00000299084.8:c.193C>T	ENSP00000299084.4:p.Leu65Phe
ENST00000561205.1:n.531C>T
ENST00000561317.1:c.130C>T	ENSP00000453680.1:p.Leu44Phe
NM_152594.2:c.193C>T	NP_689807.1:p.Leu65Phe
XM_005254202.2:c.229C>T	XP_005254259.1:p.Leu77Phe
XM_005254203.3:c.-15-22708C>T	XP_005254260.1:n.-15-22708C>T
XM_011521288.1:c.130C>T	XP_011519590.1:p.Leu44Phe
XM_011521289.1:c.130C>T	XP_011519591.1:p.Leu44Phe
XM_011521290.1:c.130C>T	XP_011519592.1:p.Leu44Phe
XM_005254202.3:c.229C>T	XP_005254259.1:p.Leu77Phe
XM_011521289.3:c.130C>T	XP_011519591.1:p.Leu44Phe
NM_152594.3:c.193C>T MANE Select	NP_689807.1:p.Leu65Phe