Canonical Allele Identifier: CA7470241

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 536698
• ClinVar RCV Id: RCV000645306 ; RCV001264488 ; RCV001568595
• dbSNP Id: rs771480941
• ExAC: 15:38643722 G / A
• gnomAD v2: 15-38643722-G-A
• gnomAD v3: 15-38351521-G-A
• gnomAD v4: 15-38351521-G-A
• MyVariant Identifiers: chr15:g.38643722G>A (hg19) ; chr15:g.38351521G>A (hg38)
• PubMed: PMID:19920235

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351521G>A , CM000677.2:g.38351521G>A	GRCh38
NC_000015.9:g.38643722G>A , CM000677.1:g.38643722G>A	GRCh37
NC_000015.8:g.36431014G>A	NCBI36
NG_008980.1:g.103671G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1192G>A MANE Select	ENSP00000299084.4:p.Asp398Asn
ENST00000299084.8:c.1192G>A	ENSP00000299084.4:p.Asp398Asn
NM_152594.2:c.1192G>A	NP_689807.1:p.Asp398Asn
XM_005254202.2:c.1228G>A	XP_005254259.1:p.Asp410Asn
XM_005254203.3:c.970G>A	XP_005254260.1:p.Asp324Asn
XM_011521288.1:c.1129G>A	XP_011519590.1:p.Asp377Asn
XM_011521289.1:c.1129G>A	XP_011519591.1:p.Asp377Asn
XM_011521290.1:c.1129G>A	XP_011519592.1:p.Asp377Asn
XM_005254202.3:c.1228G>A	XP_005254259.1:p.Asp410Asn
XM_011521289.3:c.1129G>A	XP_011519591.1:p.Asp377Asn
NM_152594.3:c.1192G>A MANE Select	NP_689807.1:p.Asp398Asn