Canonical Allele Identifier: CA391933821

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1362601
• ClinVar RCV Id: RCV001934499
• dbSNP Id: rs1888483954
• gnomAD v3: 15-38351354-T-A
• gnomAD v4: 15-38351354-T-A
• MyVariant Identifiers: chr15:g.38643555T>A (hg19) ; chr15:g.38351354T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351354T>A , CM000677.2:g.38351354T>A	GRCh38
NC_000015.9:g.38643555T>A , CM000677.1:g.38643555T>A	GRCh37
NC_000015.8:g.36430847T>A	NCBI36
NG_008980.1:g.103504T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1025T>A MANE Select	ENSP00000299084.4:p.Phe342Tyr
ENST00000299084.8:c.1025T>A	ENSP00000299084.4:p.Phe342Tyr
NM_152594.2:c.1025T>A	NP_689807.1:p.Phe342Tyr
XM_005254202.2:c.1061T>A	XP_005254259.1:p.Phe354Tyr
XM_005254203.3:c.803T>A	XP_005254260.1:p.Phe268Tyr
XM_011521288.1:c.962T>A	XP_011519590.1:p.Phe321Tyr
XM_011521289.1:c.962T>A	XP_011519591.1:p.Phe321Tyr
XM_011521290.1:c.962T>A	XP_011519592.1:p.Phe321Tyr
XM_005254202.3:c.1061T>A	XP_005254259.1:p.Phe354Tyr
XM_011521289.3:c.962T>A	XP_011519591.1:p.Phe321Tyr
NM_152594.3:c.1025T>A MANE Select	NP_689807.1:p.Phe342Tyr