Canonical Allele Identifier: CA7470248

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1022406
• ClinVar RCV Id: RCV001322309
• dbSNP Id: rs748390368
• ExAC: 15:38643747 C / T
• gnomAD v2: 15-38643747-C-T
• gnomAD v3: 15-38351546-C-T
• gnomAD v4: 15-38351546-C-T
• MyVariant Identifiers: chr15:g.38643747C>T (hg19) ; chr15:g.38351546C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351546C>T , CM000677.2:g.38351546C>T	GRCh38
NC_000015.9:g.38643747C>T , CM000677.1:g.38643747C>T	GRCh37
NC_000015.8:g.36431039C>T	NCBI36
NG_008980.1:g.103696C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.1217C>T MANE Select	ENSP00000299084.4:p.Ala406Val
ENST00000299084.8:c.1217C>T	ENSP00000299084.4:p.Ala406Val
NM_152594.2:c.1217C>T	NP_689807.1:p.Ala406Val
XM_005254202.2:c.1253C>T	XP_005254259.1:p.Ala418Val
XM_005254203.3:c.995C>T	XP_005254260.1:p.Ala332Val
XM_011521288.1:c.1154C>T	XP_011519590.1:p.Ala385Val
XM_011521289.1:c.1154C>T	XP_011519591.1:p.Ala385Val
XM_011521290.1:c.1154C>T	XP_011519592.1:p.Ala385Val
XM_005254202.3:c.1253C>T	XP_005254259.1:p.Ala418Val
XM_011521289.3:c.1154C>T	XP_011519591.1:p.Ala385Val
NM_152594.3:c.1217C>T MANE Select	NP_689807.1:p.Ala406Val