Canonical Allele Identifier: CA391932903
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.644A>T MANE Select ENSP00000299084.4:p.Gln215Leu
ENST00000299084.8:c.644A>T ENSP00000299084.4:p.Gln215Leu
NM_152594.2:c.644A>T NP_689807.1:p.Gln215Leu
XM_005254202.2:c.680A>T XP_005254259.1:p.Gln227Leu
XM_005254203.3:c.422A>T XP_005254260.1:p.Gln141Leu
XM_011521288.1:c.581A>T XP_011519590.1:p.Gln194Leu
XM_011521289.1:c.581A>T XP_011519591.1:p.Gln194Leu
XM_011521290.1:c.581A>T XP_011519592.1:p.Gln194Leu
XM_005254202.3:c.680A>T XP_005254259.1:p.Gln227Leu
XM_011521289.3:c.581A>T XP_011519591.1:p.Gln194Leu
NM_152594.3:c.644A>T MANE Select NP_689807.1:p.Gln215Leu