Canonical Allele Identifier: CA391934743

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 2907155
• ClinVar RCV Id: RCV003601238
• MyVariant Identifiers: chr15:g.38643805G>A (hg19) ; chr15:g.38351604G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351604G>A , CM000677.2:g.38351604G>A	GRCh38
NC_000015.9:g.38643805G>A , CM000677.1:g.38643805G>A	GRCh37
NC_000015.8:g.36431097G>A	NCBI36
NG_008980.1:g.103754G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1275G>A MANE Select	ENSP00000299084.4:p.Met425Ile
ENST00000299084.8:c.1275G>A	ENSP00000299084.4:p.Met425Ile
NM_152594.2:c.1275G>A	NP_689807.1:p.Met425Ile
XM_005254202.2:c.1311G>A	XP_005254259.1:p.Met437Ile
XM_005254203.3:c.1053G>A	XP_005254260.1:p.Met351Ile
XM_011521288.1:c.1212G>A	XP_011519590.1:p.Met404Ile
XM_011521289.1:c.1212G>A	XP_011519591.1:p.Met404Ile
XM_011521290.1:c.1212G>A	XP_011519592.1:p.Met404Ile
XM_005254202.3:c.1311G>A	XP_005254259.1:p.Met437Ile
XM_011521289.3:c.1212G>A	XP_011519591.1:p.Met404Ile
NM_152594.3:c.1275G>A MANE Select	NP_689807.1:p.Met425Ile