Canonical Allele Identifier: CA16042947

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 373287
• ClinVar RCV Id: RCV000412862 ; RCV001861431
• dbSNP Id: rs1057518328
• gnomAD v4: 15-38339733-A-G
• MyVariant Identifiers: chr15:g.38631934A>G (hg19) ; chr15:g.38339733A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38339733A>G , CM000677.2:g.38339733A>G	GRCh38
NC_000015.9:g.38631934A>G , CM000677.1:g.38631934A>G	GRCh37
NC_000015.8:g.36419226A>G	NCBI36
NG_008980.1:g.91883A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.424-4A>G MANE Select	ENSP00000299084.4:n.424-4A>G
ENST00000299084.8:c.424-4A>G	ENSP00000299084.4:n.424-4A>G
ENST00000561317.1:c.361-4A>G	ENSP00000453680.1:n.361-4A>G
NM_152594.2:c.424-4A>G	NP_689807.1:n.424-4A>G
XM_005254202.2:c.460-4A>G	XP_005254259.1:n.460-4A>G
XM_005254203.3:c.202-4A>G	XP_005254260.1:n.202-4A>G
XM_011521288.1:c.361-4A>G	XP_011519590.1:n.361-4A>G
XM_011521289.1:c.361-4A>G	XP_011519591.1:n.361-4A>G
XM_011521290.1:c.361-4A>G	XP_011519592.1:n.361-4A>G
XM_005254202.3:c.460-4A>G	XP_005254259.1:n.460-4A>G
XM_011521289.3:c.361-4A>G	XP_011519591.1:n.361-4A>G
NM_152594.3:c.424-4A>G MANE Select	NP_689807.1:n.424-4A>G