Canonical Allele Identifier: CA391933781
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2825380
ClinVar RCV Id: RCV003601762

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38299382T>G , CM000677.2:g.38299382T>G GRCh38
NC_000015.9:g.38591583T>G , CM000677.1:g.38591583T>G GRCh37
NC_000015.8:g.36378875T>G NCBI36
NG_008980.1:g.51532T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.42T>G MANE Select ENSP00000299084.4:p.Tyr14Ter
ENST00000299084.8:c.42T>G ENSP00000299084.4:p.Tyr14Ter
ENST00000561205.1:n.380T>G
ENST00000561317.1:c.-22T>G ENSP00000453680.1:n.-22T>G
NM_152594.2:c.42T>G NP_689807.1:p.Tyr14Ter
XM_005254202.2:c.78T>G XP_005254259.1:p.Tyr26Ter
XM_005254203.3:c.-15-22859T>G XP_005254260.1:n.-15-22859T>G
XM_011521288.1:c.-22T>G XP_011519590.1:n.-22T>G
XM_011521289.1:c.-22T>G XP_011519591.1:n.-22T>G
XM_011521290.1:c.-22T>G XP_011519592.1:n.-22T>G
XM_005254202.3:c.78T>G XP_005254259.1:p.Tyr26Ter
XM_011521289.3:c.-22T>G XP_011519591.1:n.-22T>G
NM_152594.3:c.42T>G MANE Select NP_689807.1:p.Tyr14Ter