Canonical Allele Identifier: CA391934654

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38351566-A-G
• MyVariant Identifiers: chr15:g.38643767A>G (hg19) ; chr15:g.38351566A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351566A>G , CM000677.2:g.38351566A>G	GRCh38
NC_000015.9:g.38643767A>G , CM000677.1:g.38643767A>G	GRCh37
NC_000015.8:g.36431059A>G	NCBI36
NG_008980.1:g.103716A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.1237A>G MANE Select	ENSP00000299084.4:p.Ile413Val
ENST00000299084.8:c.1237A>G	ENSP00000299084.4:p.Ile413Val
NM_152594.2:c.1237A>G	NP_689807.1:p.Ile413Val
XM_005254202.2:c.1273A>G	XP_005254259.1:p.Ile425Val
XM_005254203.3:c.1015A>G	XP_005254260.1:p.Ile339Val
XM_011521288.1:c.1174A>G	XP_011519590.1:p.Ile392Val
XM_011521289.1:c.1174A>G	XP_011519591.1:p.Ile392Val
XM_011521290.1:c.1174A>G	XP_011519592.1:p.Ile392Val
XM_005254202.3:c.1273A>G	XP_005254259.1:p.Ile425Val
XM_011521289.3:c.1174A>G	XP_011519591.1:p.Ile392Val
NM_152594.3:c.1237A>G MANE Select	NP_689807.1:p.Ile413Val