Canonical Allele Identifier: CA7470226

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 468787
• ClinVar RCV Id: RCV000545664
• dbSNP Id: rs763738243
• ExAC: 15:38643606 T / A
• gnomAD v2: 15-38643606-T-A
• gnomAD v4: 15-38351405-T-A
• MyVariant Identifiers: chr15:g.38643606T>A (hg19) ; chr15:g.38351405T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351405T>A , CM000677.2:g.38351405T>A	GRCh38
NC_000015.9:g.38643606T>A , CM000677.1:g.38643606T>A	GRCh37
NC_000015.8:g.36430898T>A	NCBI36
NG_008980.1:g.103555T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1076T>A MANE Select	ENSP00000299084.4:p.Ile359Asn
ENST00000299084.8:c.1076T>A	ENSP00000299084.4:p.Ile359Asn
NM_152594.2:c.1076T>A	NP_689807.1:p.Ile359Asn
XM_005254202.2:c.1112T>A	XP_005254259.1:p.Ile371Asn
XM_005254203.3:c.854T>A	XP_005254260.1:p.Ile285Asn
XM_011521288.1:c.1013T>A	XP_011519590.1:p.Ile338Asn
XM_011521289.1:c.1013T>A	XP_011519591.1:p.Ile338Asn
XM_011521290.1:c.1013T>A	XP_011519592.1:p.Ile338Asn
XM_005254202.3:c.1112T>A	XP_005254259.1:p.Ile371Asn
XM_011521289.3:c.1013T>A	XP_011519591.1:p.Ile338Asn
NM_152594.3:c.1076T>A MANE Select	NP_689807.1:p.Ile359Asn