Canonical Allele Identifier: CA391932898
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38349480G>T , CM000677.2:g.38349480G>T GRCh38
NC_000015.9:g.38641681G>T , CM000677.1:g.38641681G>T GRCh37
NC_000015.8:g.36428973G>T NCBI36
NG_008980.1:g.101630G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.641G>T MANE Select ENSP00000299084.4:p.Arg214Leu
ENST00000299084.8:c.641G>T ENSP00000299084.4:p.Arg214Leu
NM_152594.2:c.641G>T NP_689807.1:p.Arg214Leu
XM_005254202.2:c.677G>T XP_005254259.1:p.Arg226Leu
XM_005254203.3:c.419G>T XP_005254260.1:p.Arg140Leu
XM_011521288.1:c.578G>T XP_011519590.1:p.Arg193Leu
XM_011521289.1:c.578G>T XP_011519591.1:p.Arg193Leu
XM_011521290.1:c.578G>T XP_011519592.1:p.Arg193Leu
XM_005254202.3:c.677G>T XP_005254259.1:p.Arg226Leu
XM_011521289.3:c.578G>T XP_011519591.1:p.Arg193Leu
NM_152594.3:c.641G>T MANE Select NP_689807.1:p.Arg214Leu