Canonical Allele Identifier: CA391934809
Gene: SPRED1 HGNC NCBI

Linked Data

COSMIC: COSM346424

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351633G>T , CM000677.2:g.38351633G>T GRCh38
NC_000015.9:g.38643834G>T , CM000677.1:g.38643834G>T GRCh37
NC_000015.8:g.36431126G>T NCBI36
NG_008980.1:g.103783G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.1304G>T MANE Select ENSP00000299084.4:p.Cys435Phe
ENST00000299084.8:c.1304G>T ENSP00000299084.4:p.Cys435Phe
NM_152594.2:c.1304G>T NP_689807.1:p.Cys435Phe
XM_005254202.2:c.1340G>T XP_005254259.1:p.Cys447Phe
XM_005254203.3:c.1082G>T XP_005254260.1:p.Cys361Phe
XM_011521288.1:c.1241G>T XP_011519590.1:p.Cys414Phe
XM_011521289.1:c.1241G>T XP_011519591.1:p.Cys414Phe
XM_011521290.1:c.1241G>T XP_011519592.1:p.Cys414Phe
XM_005254202.3:c.1340G>T XP_005254259.1:p.Cys447Phe
XM_011521289.3:c.1241G>T XP_011519591.1:p.Cys414Phe
NM_152594.3:c.1304G>T MANE Select NP_689807.1:p.Cys435Phe