Canonical Allele Identifier: CA391933857
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38299401G>T , CM000677.2:g.38299401G>T GRCh38
NC_000015.9:g.38591602G>T , CM000677.1:g.38591602G>T GRCh37
NC_000015.8:g.36378894G>T NCBI36
NG_008980.1:g.51551G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.61G>T MANE Select ENSP00000299084.4:p.Val21Leu
ENST00000299084.8:c.61G>T ENSP00000299084.4:p.Val21Leu
ENST00000561205.1:n.399G>T
ENST00000561317.1:c.-3G>T ENSP00000453680.1:n.-3G>T
NM_152594.2:c.61G>T NP_689807.1:p.Val21Leu
XM_005254202.2:c.97G>T XP_005254259.1:p.Val33Leu
XM_005254203.3:c.-15-22840G>T XP_005254260.1:n.-15-22840G>T
XM_011521288.1:c.-3G>T XP_011519590.1:n.-3G>T
XM_011521289.1:c.-3G>T XP_011519591.1:n.-3G>T
XM_011521290.1:c.-3G>T XP_011519592.1:n.-3G>T
XM_005254202.3:c.97G>T XP_005254259.1:p.Val33Leu
XM_011521289.3:c.-3G>T XP_011519591.1:n.-3G>T
NM_152594.3:c.61G>T MANE Select NP_689807.1:p.Val21Leu