Canonical Allele Identifier: CA7470217

Gene: SPRED1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351330G>A , CM000677.2:g.38351330G>A	GRCh38
NC_000015.9:g.38643531G>A , CM000677.1:g.38643531G>A	GRCh37
NC_000015.8:g.36430823G>A	NCBI36
NG_008980.1:g.103480G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152594.3:c.1001G>A MANE Select	NP_689807.1:p.Arg334His
ENST00000299084.9:c.1001G>A MANE Select	ENSP00000299084.4:p.Arg334His
NM_152594.2:c.1001G>A	NP_689807.1:p.Arg334His
ENST00000299084.8:c.1001G>A	ENSP00000299084.4:p.Arg334His
XM_005254202.2:c.1037G>A	XP_005254259.1:p.Arg346His
XM_005254202.3:c.1037G>A	XP_005254259.1:p.Arg346His
XM_005254203.3:c.779G>A	XP_005254260.1:p.Arg260His
XM_011521288.1:c.938G>A	XP_011519590.1:p.Arg313His
XM_011521289.1:c.938G>A	XP_011519591.1:p.Arg313His
XM_011521289.3:c.938G>A	XP_011519591.1:p.Arg313His
XM_011521290.1:c.938G>A	XP_011519592.1:p.Arg313His