Canonical Allele Identifier: CA391933848
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38299399T>C , CM000677.2:g.38299399T>C GRCh38
NC_000015.9:g.38591600T>C , CM000677.1:g.38591600T>C GRCh37
NC_000015.8:g.36378892T>C NCBI36
NG_008980.1:g.51549T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.59T>C MANE Select ENSP00000299084.4:p.Val20Ala
ENST00000299084.8:c.59T>C ENSP00000299084.4:p.Val20Ala
ENST00000561205.1:n.397T>C
ENST00000561317.1:c.-5T>C ENSP00000453680.1:n.-5T>C
NM_152594.2:c.59T>C NP_689807.1:p.Val20Ala
XM_005254202.2:c.95T>C XP_005254259.1:p.Val32Ala
XM_005254203.3:c.-15-22842T>C XP_005254260.1:n.-15-22842T>C
XM_011521288.1:c.-5T>C XP_011519590.1:n.-5T>C
XM_011521289.1:c.-5T>C XP_011519591.1:n.-5T>C
XM_011521290.1:c.-5T>C XP_011519592.1:n.-5T>C
XM_005254202.3:c.95T>C XP_005254259.1:p.Val32Ala
XM_011521289.3:c.-5T>C XP_011519591.1:n.-5T>C
NM_152594.3:c.59T>C MANE Select NP_689807.1:p.Val20Ala