Canonical Allele Identifier: CA391933536
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351243C>T , CM000677.2:g.38351243C>T GRCh38
NC_000015.9:g.38643444C>T , CM000677.1:g.38643444C>T GRCh37
NC_000015.8:g.36430736C>T NCBI36
NG_008980.1:g.103393C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.914C>T MANE Select ENSP00000299084.4:p.Pro305Leu
ENST00000299084.8:c.914C>T ENSP00000299084.4:p.Pro305Leu
NM_152594.2:c.914C>T NP_689807.1:p.Pro305Leu
XM_005254202.2:c.950C>T XP_005254259.1:p.Pro317Leu
XM_005254203.3:c.692C>T XP_005254260.1:p.Pro231Leu
XM_011521288.1:c.851C>T XP_011519590.1:p.Pro284Leu
XM_011521289.1:c.851C>T XP_011519591.1:p.Pro284Leu
XM_011521290.1:c.851C>T XP_011519592.1:p.Pro284Leu
XM_005254202.3:c.950C>T XP_005254259.1:p.Pro317Leu
XM_011521289.3:c.851C>T XP_011519591.1:p.Pro284Leu
NM_152594.3:c.914C>T MANE Select NP_689807.1:p.Pro305Leu