Canonical Allele Identifier: CA391933416
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351190T>A , CM000677.2:g.38351190T>A GRCh38
NC_000015.9:g.38643391T>A , CM000677.1:g.38643391T>A GRCh37
NC_000015.8:g.36430683T>A NCBI36
NG_008980.1:g.103340T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.861T>A MANE Select ENSP00000299084.4:p.Ser287Arg
ENST00000299084.8:c.861T>A ENSP00000299084.4:p.Ser287Arg
NM_152594.2:c.861T>A NP_689807.1:p.Ser287Arg
XM_005254202.2:c.897T>A XP_005254259.1:p.Ser299Arg
XM_005254203.3:c.639T>A XP_005254260.1:p.Ser213Arg
XM_011521288.1:c.798T>A XP_011519590.1:p.Ser266Arg
XM_011521289.1:c.798T>A XP_011519591.1:p.Ser266Arg
XM_011521290.1:c.798T>A XP_011519592.1:p.Ser266Arg
XM_005254202.3:c.897T>A XP_005254259.1:p.Ser299Arg
XM_011521289.3:c.798T>A XP_011519591.1:p.Ser266Arg
NM_152594.3:c.861T>A MANE Select NP_689807.1:p.Ser287Arg