Canonical Allele Identifier: CA391933143

Gene: SPRED1

Linked Data

• MyVariant Identifiers: chr15:g.38643273T>G (hg19) ; chr15:g.38351072T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351072T>G , CM000677.2:g.38351072T>G	GRCh38
NC_000015.9:g.38643273T>G , CM000677.1:g.38643273T>G	GRCh37
NC_000015.8:g.36430565T>G	NCBI36
NG_008980.1:g.103222T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.743T>G MANE Select	ENSP00000299084.4:p.Ile248Arg
ENST00000299084.8:c.743T>G	ENSP00000299084.4:p.Ile248Arg
NM_152594.2:c.743T>G	NP_689807.1:p.Ile248Arg
XM_005254202.2:c.779T>G	XP_005254259.1:p.Ile260Arg
XM_005254203.3:c.521T>G	XP_005254260.1:p.Ile174Arg
XM_011521288.1:c.680T>G	XP_011519590.1:p.Ile227Arg
XM_011521289.1:c.680T>G	XP_011519591.1:p.Ile227Arg
XM_011521290.1:c.680T>G	XP_011519592.1:p.Ile227Arg
XM_005254202.3:c.779T>G	XP_005254259.1:p.Ile260Arg
XM_011521289.3:c.680T>G	XP_011519591.1:p.Ile227Arg
NM_152594.3:c.743T>G MANE Select	NP_689807.1:p.Ile248Arg