Canonical Allele Identifier: CA391933470
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351213C>T , CM000677.2:g.38351213C>T GRCh38
NC_000015.9:g.38643414C>T , CM000677.1:g.38643414C>T GRCh37
NC_000015.8:g.36430706C>T NCBI36
NG_008980.1:g.103363C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.884C>T MANE Select ENSP00000299084.4:p.Ser295Phe
ENST00000299084.8:c.884C>T ENSP00000299084.4:p.Ser295Phe
NM_152594.2:c.884C>T NP_689807.1:p.Ser295Phe
XM_005254202.2:c.920C>T XP_005254259.1:p.Ser307Phe
XM_005254203.3:c.662C>T XP_005254260.1:p.Ser221Phe
XM_011521288.1:c.821C>T XP_011519590.1:p.Ser274Phe
XM_011521289.1:c.821C>T XP_011519591.1:p.Ser274Phe
XM_011521290.1:c.821C>T XP_011519592.1:p.Ser274Phe
XM_005254202.3:c.920C>T XP_005254259.1:p.Ser307Phe
XM_011521289.3:c.821C>T XP_011519591.1:p.Ser274Phe
NM_152594.3:c.884C>T MANE Select NP_689807.1:p.Ser295Phe