Canonical Allele Identifier: CA391934399
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351495A>T , CM000677.2:g.38351495A>T GRCh38
NC_000015.9:g.38643696A>T , CM000677.1:g.38643696A>T GRCh37
NC_000015.8:g.36430988A>T NCBI36
NG_008980.1:g.103645A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1166A>T MANE Select ENSP00000299084.4:p.Asp389Val
ENST00000299084.8:c.1166A>T ENSP00000299084.4:p.Asp389Val
NM_152594.2:c.1166A>T NP_689807.1:p.Asp389Val
XM_005254202.2:c.1202A>T XP_005254259.1:p.Asp401Val
XM_005254203.3:c.944A>T XP_005254260.1:p.Asp315Val
XM_011521288.1:c.1103A>T XP_011519590.1:p.Asp368Val
XM_011521289.1:c.1103A>T XP_011519591.1:p.Asp368Val
XM_011521290.1:c.1103A>T XP_011519592.1:p.Asp368Val
XM_005254202.3:c.1202A>T XP_005254259.1:p.Asp401Val
XM_011521289.3:c.1103A>T XP_011519591.1:p.Asp368Val
NM_152594.3:c.1166A>T MANE Select NP_689807.1:p.Asp389Val