Canonical Allele Identifier: CA391931844

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 2828445
• ClinVar RCV Id: RCV003601826
• MyVariant Identifiers: chr15:g.38545411G>A (hg19) ; chr15:g.38253210G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38253210G>A , CM000677.2:g.38253210G>A	GRCh38
NC_000015.9:g.38545411G>A , CM000677.1:g.38545411G>A	GRCh37
NC_000015.8:g.36332703G>A	NCBI36
NG_008980.1:g.5360G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.25G>A MANE Select	ENSP00000299084.4:p.Asp9Asn
ENST00000299084.8:c.25G>A	ENSP00000299084.4:p.Asp9Asn
ENST00000561205.1:n.363G>A
ENST00000561317.1:c.-103G>A	ENSP00000453680.1:n.-103G>A
NM_152594.2:c.25G>A	NP_689807.1:p.Asp9Asn
XM_005254202.2:c.25G>A	XP_005254259.1:p.Asp9Asn
XM_005254203.3:c.-23G>A	XP_005254260.1:n.-23G>A
XM_005254202.3:c.25G>A	XP_005254259.1:p.Asp9Asn
XR_001751484.1:n.87+357C>T
NM_152594.3:c.25G>A MANE Select	NP_689807.1:p.Asp9Asn