Canonical Allele Identifier: CA181530
Gene: SPRED1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.38351255T>C
GRCh37 chr15:g.38643456T>C
Revel Score:
ENST00000299084 (MANE Select) 0.159
gnomAD v2:
15:38643456 T / C
gnomAD v3:
15:38351255 T / C
gnomAD v4:
chr15-38351255-T-C
Joint Max Group AF 0.00587095 (AFR)
Genomes Max Group AF 0.0059948 (AFR)
Exomes Max Group AF 0.00529546 (AFR)
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'