Canonical Allele Identifier: CA712613920

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 2065027
• ClinVar RCV Id: RCV002928957
• dbSNP Id: rs1335075291
• gnomAD v4: 15-38349536-A-G
• MyVariant Identifiers: chr15:g.38641737A>G (hg19) ; chr15:g.38349536A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38349536A>G , CM000677.2:g.38349536A>G	GRCh38
NC_000015.9:g.38641737A>G , CM000677.1:g.38641737A>G	GRCh37
NC_000015.8:g.36429029A>G	NCBI36
NG_008980.1:g.101686A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.684+13A>G MANE Select	ENSP00000299084.4:n.684+13A>G
ENST00000299084.8:c.684+13A>G	ENSP00000299084.4:n.684+13A>G
NM_152594.2:c.684+13A>G	NP_689807.1:n.684+13A>G
XM_005254202.2:c.720+13A>G	XP_005254259.1:n.720+13A>G
XM_005254203.3:c.462+13A>G	XP_005254260.1:n.462+13A>G
XM_011521288.1:c.621+13A>G	XP_011519590.1:n.621+13A>G
XM_011521289.1:c.621+13A>G	XP_011519591.1:n.621+13A>G
XM_011521290.1:c.621+13A>G	XP_011519592.1:n.621+13A>G
XM_005254202.3:c.720+13A>G	XP_005254259.1:n.720+13A>G
XM_011521289.3:c.621+13A>G	XP_011519591.1:n.621+13A>G
NM_152594.3:c.684+13A>G MANE Select	NP_689807.1:n.684+13A>G