Canonical Allele Identifier: CA391933110

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38351058-T-G
• MyVariant Identifiers: chr15:g.38643259T>G (hg19) ; chr15:g.38351058T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351058T>G , CM000677.2:g.38351058T>G	GRCh38
NC_000015.9:g.38643259T>G , CM000677.1:g.38643259T>G	GRCh37
NC_000015.8:g.36430551T>G	NCBI36
NG_008980.1:g.103208T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.729T>G MANE Select	ENSP00000299084.4:p.Asp243Glu
ENST00000299084.8:c.729T>G	ENSP00000299084.4:p.Asp243Glu
NM_152594.2:c.729T>G	NP_689807.1:p.Asp243Glu
XM_005254202.2:c.765T>G	XP_005254259.1:p.Asp255Glu
XM_005254203.3:c.507T>G	XP_005254260.1:p.Asp169Glu
XM_011521288.1:c.666T>G	XP_011519590.1:p.Asp222Glu
XM_011521289.1:c.666T>G	XP_011519591.1:p.Asp222Glu
XM_011521290.1:c.666T>G	XP_011519592.1:p.Asp222Glu
XM_005254202.3:c.765T>G	XP_005254259.1:p.Asp255Glu
XM_011521289.3:c.666T>G	XP_011519591.1:p.Asp222Glu
NM_152594.3:c.729T>G MANE Select	NP_689807.1:p.Asp243Glu