Canonical Allele Identifier: CA391934625
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351558T>A , CM000677.2:g.38351558T>A GRCh38
NC_000015.9:g.38643759T>A , CM000677.1:g.38643759T>A GRCh37
NC_000015.8:g.36431051T>A NCBI36
NG_008980.1:g.103708T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.1229T>A MANE Select ENSP00000299084.4:p.Leu410Ter
ENST00000299084.8:c.1229T>A ENSP00000299084.4:p.Leu410Ter
NM_152594.2:c.1229T>A NP_689807.1:p.Leu410Ter
XM_005254202.2:c.1265T>A XP_005254259.1:p.Leu422Ter
XM_005254203.3:c.1007T>A XP_005254260.1:p.Leu336Ter
XM_011521288.1:c.1166T>A XP_011519590.1:p.Leu389Ter
XM_011521289.1:c.1166T>A XP_011519591.1:p.Leu389Ter
XM_011521290.1:c.1166T>A XP_011519592.1:p.Leu389Ter
XM_005254202.3:c.1265T>A XP_005254259.1:p.Leu422Ter
XM_011521289.3:c.1166T>A XP_011519591.1:p.Leu389Ter
NM_152594.3:c.1229T>A MANE Select NP_689807.1:p.Leu410Ter