Canonical Allele Identifier: CA7470212
Gene: SPRED1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.38351292G>A
GRCh37 chr15:g.38643493G>A
gnomAD v2:
15:38643493 G / A
gnomAD v3:
15:38351292 G / A
gnomAD v4:
chr15-38351292-G-A
Joint Max Group AF 0.0002295 (NFE)
Genomes Max Group AF 0.00011227 (NFE)
Exomes Max Group AF 0.00023227 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351292G>A , CM000677.2:g.38351292G>A GRCh38
NC_000015.9:g.38643493G>A , CM000677.1:g.38643493G>A GRCh37
NC_000015.8:g.36430785G>A NCBI36
NG_008980.1:g.103442G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.963G>A MANE Select ENSP00000299084.4:p.Lys321=
ENST00000299084.8:c.963G>A ENSP00000299084.4:p.Lys321=
NM_152594.2:c.963G>A NP_689807.1:p.Lys321=
XM_005254202.2:c.999G>A XP_005254259.1:p.Lys333=
XM_005254203.3:c.741G>A XP_005254260.1:p.Lys247=
XM_011521288.1:c.900G>A XP_011519590.1:p.Lys300=
XM_011521289.1:c.900G>A XP_011519591.1:p.Lys300=
XM_011521290.1:c.900G>A XP_011519592.1:p.Lys300=
XM_005254202.3:c.999G>A XP_005254259.1:p.Lys333=
XM_011521289.3:c.900G>A XP_011519591.1:p.Lys300=
NM_152594.3:c.963G>A MANE Select NP_689807.1:p.Lys321=
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