Canonical Allele Identifier: CA391934523

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 2194333
• ClinVar RCV Id: RCV002647390
• MyVariant Identifiers: chr15:g.38643729T>A (hg19) ; chr15:g.38351528T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351528T>A , CM000677.2:g.38351528T>A	GRCh38
NC_000015.9:g.38643729T>A , CM000677.1:g.38643729T>A	GRCh37
NC_000015.8:g.36431021T>A	NCBI36
NG_008980.1:g.103678T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.1199T>A MANE Select	ENSP00000299084.4:p.Phe400Tyr
ENST00000299084.8:c.1199T>A	ENSP00000299084.4:p.Phe400Tyr
NM_152594.2:c.1199T>A	NP_689807.1:p.Phe400Tyr
XM_005254202.2:c.1235T>A	XP_005254259.1:p.Phe412Tyr
XM_005254203.3:c.977T>A	XP_005254260.1:p.Phe326Tyr
XM_011521288.1:c.1136T>A	XP_011519590.1:p.Phe379Tyr
XM_011521289.1:c.1136T>A	XP_011519591.1:p.Phe379Tyr
XM_011521290.1:c.1136T>A	XP_011519592.1:p.Phe379Tyr
XM_005254202.3:c.1235T>A	XP_005254259.1:p.Phe412Tyr
XM_011521289.3:c.1136T>A	XP_011519591.1:p.Phe379Tyr
NM_152594.3:c.1199T>A MANE Select	NP_689807.1:p.Phe400Tyr