Canonical Allele Identifier: CA391933133

Gene: SPRED1

Linked Data

• MyVariant Identifiers: chr15:g.38643270G>A (hg19) ; chr15:g.38351069G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351069G>A , CM000677.2:g.38351069G>A	GRCh38
NC_000015.9:g.38643270G>A , CM000677.1:g.38643270G>A	GRCh37
NC_000015.8:g.36430562G>A	NCBI36
NG_008980.1:g.103219G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.740G>A MANE Select	ENSP00000299084.4:p.Arg247Lys
ENST00000299084.8:c.740G>A	ENSP00000299084.4:p.Arg247Lys
NM_152594.2:c.740G>A	NP_689807.1:p.Arg247Lys
XM_005254202.2:c.776G>A	XP_005254259.1:p.Arg259Lys
XM_005254203.3:c.518G>A	XP_005254260.1:p.Arg173Lys
XM_011521288.1:c.677G>A	XP_011519590.1:p.Arg226Lys
XM_011521289.1:c.677G>A	XP_011519591.1:p.Arg226Lys
XM_011521290.1:c.677G>A	XP_011519592.1:p.Arg226Lys
XM_005254202.3:c.776G>A	XP_005254259.1:p.Arg259Lys
XM_011521289.3:c.677G>A	XP_011519591.1:p.Arg226Lys
NM_152594.3:c.740G>A MANE Select	NP_689807.1:p.Arg247Lys