Canonical Allele Identifier: CA142270
Gene: SPRED1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.38299464G>A
GRCh37 chr15:g.38591665G>A
Revel Score:
ENST00000299084 (MANE Select) 0.606
gnomAD v2:
15:38591665 G / A
gnomAD v3:
15:38299464 G / A
gnomAD v4:
chr15-38299464-G-A
Joint Max Group AF 0.00302827 (SAS)
Genomes Max Group AF 0.00274867 (SAS)
Exomes Max Group AF 0.00297737 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38299464G>A , CM000677.2:g.38299464G>A GRCh38
NC_000015.9:g.38591665G>A , CM000677.1:g.38591665G>A GRCh37
NC_000015.8:g.36378957G>A NCBI36
NG_008980.1:g.51614G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.124G>A MANE Select ENSP00000299084.4:p.Val42Ile
ENST00000299084.8:c.124G>A ENSP00000299084.4:p.Val42Ile
ENST00000561205.1:n.462G>A
ENST00000561317.1:c.61G>A ENSP00000453680.1:p.Val21Ile
NM_152594.2:c.124G>A NP_689807.1:p.Val42Ile
XM_005254202.2:c.160G>A XP_005254259.1:p.Val54Ile
XM_005254203.3:c.-15-22777G>A XP_005254260.1:n.-15-22777G>A
XM_011521288.1:c.61G>A XP_011519590.1:p.Val21Ile
XM_011521289.1:c.61G>A XP_011519591.1:p.Val21Ile
XM_011521290.1:c.61G>A XP_011519592.1:p.Val21Ile
XM_005254202.3:c.160G>A XP_005254259.1:p.Val54Ile
XM_011521289.3:c.61G>A XP_011519591.1:p.Val21Ile
NM_152594.3:c.124G>A MANE Select NP_689807.1:p.Val42Ile
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