Canonical Allele Identifier: CA391933513
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351234T>A , CM000677.2:g.38351234T>A GRCh38
NC_000015.9:g.38643435T>A , CM000677.1:g.38643435T>A GRCh37
NC_000015.8:g.36430727T>A NCBI36
NG_008980.1:g.103384T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.905T>A MANE Select ENSP00000299084.4:p.Leu302Ter
ENST00000299084.8:c.905T>A ENSP00000299084.4:p.Leu302Ter
NM_152594.2:c.905T>A NP_689807.1:p.Leu302Ter
XM_005254202.2:c.941T>A XP_005254259.1:p.Leu314Ter
XM_005254203.3:c.683T>A XP_005254260.1:p.Leu228Ter
XM_011521288.1:c.842T>A XP_011519590.1:p.Leu281Ter
XM_011521289.1:c.842T>A XP_011519591.1:p.Leu281Ter
XM_011521290.1:c.842T>A XP_011519592.1:p.Leu281Ter
XM_005254202.3:c.941T>A XP_005254259.1:p.Leu314Ter
XM_011521289.3:c.842T>A XP_011519591.1:p.Leu281Ter
NM_152594.3:c.905T>A MANE Select NP_689807.1:p.Leu302Ter