Canonical Allele Identifier: CA7470005

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1525083
• ClinVar RCV Id: RCV002032201
• dbSNP Id: rs750686148
• ExAC: 15:38591723 G / T
• gnomAD v2: 15-38591723-G-T
• gnomAD v4: 15-38299522-G-T
• MyVariant Identifiers: chr15:g.38591723G>T (hg19) ; chr15:g.38299522G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38299522G>T , CM000677.2:g.38299522G>T	GRCh38
NC_000015.9:g.38591723G>T , CM000677.1:g.38591723G>T	GRCh37
NC_000015.8:g.36379015G>T	NCBI36
NG_008980.1:g.51672G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.182G>T MANE Select	ENSP00000299084.4:p.Arg61Leu
ENST00000299084.8:c.182G>T	ENSP00000299084.4:p.Arg61Leu
ENST00000561205.1:n.520G>T
ENST00000561317.1:c.119G>T	ENSP00000453680.1:p.Arg40Leu
NM_152594.2:c.182G>T	NP_689807.1:p.Arg61Leu
XM_005254202.2:c.218G>T	XP_005254259.1:p.Arg73Leu
XM_005254203.3:c.-15-22719G>T	XP_005254260.1:n.-15-22719G>T
XM_011521288.1:c.119G>T	XP_011519590.1:p.Arg40Leu
XM_011521289.1:c.119G>T	XP_011519591.1:p.Arg40Leu
XM_011521290.1:c.119G>T	XP_011519592.1:p.Arg40Leu
XM_005254202.3:c.218G>T	XP_005254259.1:p.Arg73Leu
XM_011521289.3:c.119G>T	XP_011519591.1:p.Arg40Leu
NM_152594.3:c.182G>T MANE Select	NP_689807.1:p.Arg61Leu