Canonical Allele Identifier: CA391932902
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38349483A>G , CM000677.2:g.38349483A>G GRCh38
NC_000015.9:g.38641684A>G , CM000677.1:g.38641684A>G GRCh37
NC_000015.8:g.36428976A>G NCBI36
NG_008980.1:g.101633A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.644A>G MANE Select ENSP00000299084.4:p.Gln215Arg
ENST00000299084.8:c.644A>G ENSP00000299084.4:p.Gln215Arg
NM_152594.2:c.644A>G NP_689807.1:p.Gln215Arg
XM_005254202.2:c.680A>G XP_005254259.1:p.Gln227Arg
XM_005254203.3:c.422A>G XP_005254260.1:p.Gln141Arg
XM_011521288.1:c.581A>G XP_011519590.1:p.Gln194Arg
XM_011521289.1:c.581A>G XP_011519591.1:p.Gln194Arg
XM_011521290.1:c.581A>G XP_011519592.1:p.Gln194Arg
XM_005254202.3:c.680A>G XP_005254259.1:p.Gln227Arg
XM_011521289.3:c.581A>G XP_011519591.1:p.Gln194Arg
NM_152594.3:c.644A>G MANE Select NP_689807.1:p.Gln215Arg