Canonical Allele Identifier: CA391934439
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351506T>G , CM000677.2:g.38351506T>G GRCh38
NC_000015.9:g.38643707T>G , CM000677.1:g.38643707T>G GRCh37
NC_000015.8:g.36430999T>G NCBI36
NG_008980.1:g.103656T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1177T>G MANE Select ENSP00000299084.4:p.Cys393Gly
ENST00000299084.8:c.1177T>G ENSP00000299084.4:p.Cys393Gly
NM_152594.2:c.1177T>G NP_689807.1:p.Cys393Gly
XM_005254202.2:c.1213T>G XP_005254259.1:p.Cys405Gly
XM_005254203.3:c.955T>G XP_005254260.1:p.Cys319Gly
XM_011521288.1:c.1114T>G XP_011519590.1:p.Cys372Gly
XM_011521289.1:c.1114T>G XP_011519591.1:p.Cys372Gly
XM_011521290.1:c.1114T>G XP_011519592.1:p.Cys372Gly
XM_005254202.3:c.1213T>G XP_005254259.1:p.Cys405Gly
XM_011521289.3:c.1114T>G XP_011519591.1:p.Cys372Gly
NM_152594.3:c.1177T>G MANE Select NP_689807.1:p.Cys393Gly