Canonical Allele Identifier: CA7470207
Gene: SPRED1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.38351268G>A
GRCh37 chr15:g.38643469G>A
gnomAD v2:
15:38643469 G / A
gnomAD v3:
15:38351268 G / A
gnomAD v4:
chr15-38351268-G-A
Joint Max Group AF 0.00083512 (NFE)
Genomes Max Group AF 0.00080809 (NFE)
Exomes Max Group AF 0.00082597 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351268G>A , CM000677.2:g.38351268G>A GRCh38
NC_000015.9:g.38643469G>A , CM000677.1:g.38643469G>A GRCh37
NC_000015.8:g.36430761G>A NCBI36
NG_008980.1:g.103418G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.939G>A MANE Select ENSP00000299084.4:p.Thr313=
ENST00000299084.8:c.939G>A ENSP00000299084.4:p.Thr313=
NM_152594.2:c.939G>A NP_689807.1:p.Thr313=
XM_005254202.2:c.975G>A XP_005254259.1:p.Thr325=
XM_005254203.3:c.717G>A XP_005254260.1:p.Thr239=
XM_011521288.1:c.876G>A XP_011519590.1:p.Thr292=
XM_011521289.1:c.876G>A XP_011519591.1:p.Thr292=
XM_011521290.1:c.876G>A XP_011519592.1:p.Thr292=
XM_005254202.3:c.975G>A XP_005254259.1:p.Thr325=
XM_011521289.3:c.876G>A XP_011519591.1:p.Thr292=
NM_152594.3:c.939G>A MANE Select NP_689807.1:p.Thr313=
Search 100 bp 5'
Search 100 bp 3'