Canonical Allele Identifier: CA181530

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 178134
• ClinVar RCV Id: RCV000154849 ; RCV000456632 ; RCV000586323 ; RCV001813401 ; RCV004019853
• dbSNP Id: rs114636635
• ExAC: 15:38643456 T / C
• gnomAD v2: 15-38643456-T-C
• gnomAD v3: 15-38351255-T-C
• gnomAD v4: 15-38351255-T-C
• MyVariant Identifiers: chr15:g.38643456T>C (hg19) ; chr15:g.38351255T>C (hg38)
• PubMed: PMID:21548021

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351255T>C , CM000677.2:g.38351255T>C	GRCh38
NC_000015.9:g.38643456T>C , CM000677.1:g.38643456T>C	GRCh37
NC_000015.8:g.36430748T>C	NCBI36
NG_008980.1:g.103405T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.926T>C MANE Select	ENSP00000299084.4:p.Val309Ala
ENST00000299084.8:c.926T>C	ENSP00000299084.4:p.Val309Ala
NM_152594.2:c.926T>C	NP_689807.1:p.Val309Ala
XM_005254202.2:c.962T>C	XP_005254259.1:p.Val321Ala
XM_005254203.3:c.704T>C	XP_005254260.1:p.Val235Ala
XM_011521288.1:c.863T>C	XP_011519590.1:p.Val288Ala
XM_011521289.1:c.863T>C	XP_011519591.1:p.Val288Ala
XM_011521290.1:c.863T>C	XP_011519592.1:p.Val288Ala
XM_005254202.3:c.962T>C	XP_005254259.1:p.Val321Ala
XM_011521289.3:c.863T>C	XP_011519591.1:p.Val288Ala
NM_152594.3:c.926T>C MANE Select	NP_689807.1:p.Val309Ala