Canonical Allele Identifier: CA269293449

Gene: SPRED1

Linked Data

• dbSNP Id: rs1014323023
• gnomAD v3: 15-38351243-C-G
• gnomAD v4: 15-38351243-C-G
• MyVariant Identifiers: chr15:g.38643444C>G (hg19) ; chr15:g.38351243C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351243C>G , CM000677.2:g.38351243C>G	GRCh38
NC_000015.9:g.38643444C>G , CM000677.1:g.38643444C>G	GRCh37
NC_000015.8:g.36430736C>G	NCBI36
NG_008980.1:g.103393C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.914C>G MANE Select	ENSP00000299084.4:p.Pro305Arg
ENST00000299084.8:c.914C>G	ENSP00000299084.4:p.Pro305Arg
NM_152594.2:c.914C>G	NP_689807.1:p.Pro305Arg
XM_005254202.2:c.950C>G	XP_005254259.1:p.Pro317Arg
XM_005254203.3:c.692C>G	XP_005254260.1:p.Pro231Arg
XM_011521288.1:c.851C>G	XP_011519590.1:p.Pro284Arg
XM_011521289.1:c.851C>G	XP_011519591.1:p.Pro284Arg
XM_011521290.1:c.851C>G	XP_011519592.1:p.Pro284Arg
XM_005254202.3:c.950C>G	XP_005254259.1:p.Pro317Arg
XM_011521289.3:c.851C>G	XP_011519591.1:p.Pro284Arg
NM_152594.3:c.914C>G MANE Select	NP_689807.1:p.Pro305Arg