Canonical Allele Identifier: CA391934318
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2662977
ClinVar RCV Id: RCV003441642

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351474A>T , CM000677.2:g.38351474A>T GRCh38
NC_000015.9:g.38643675A>T , CM000677.1:g.38643675A>T GRCh37
NC_000015.8:g.36430967A>T NCBI36
NG_008980.1:g.103624A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1145A>T MANE Select ENSP00000299084.4:p.Asp382Val
ENST00000299084.8:c.1145A>T ENSP00000299084.4:p.Asp382Val
NM_152594.2:c.1145A>T NP_689807.1:p.Asp382Val
XM_005254202.2:c.1181A>T XP_005254259.1:p.Asp394Val
XM_005254203.3:c.923A>T XP_005254260.1:p.Asp308Val
XM_011521288.1:c.1082A>T XP_011519590.1:p.Asp361Val
XM_011521289.1:c.1082A>T XP_011519591.1:p.Asp361Val
XM_011521290.1:c.1082A>T XP_011519592.1:p.Asp361Val
XM_005254202.3:c.1181A>T XP_005254259.1:p.Asp394Val
XM_011521289.3:c.1082A>T XP_011519591.1:p.Asp361Val
NM_152594.3:c.1145A>T MANE Select NP_689807.1:p.Asp382Val