Canonical Allele Identifier: CA2510127003
Gene: SPRED1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38299743G>T , CM000677.2:g.38299743G>T GRCh38
NC_000015.9:g.38591944G>T , CM000677.1:g.38591944G>T GRCh37
NC_000015.8:g.36379236G>T NCBI36
NG_008980.1:g.51893G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.207+196G>T MANE Select ENSP00000299084.4:n.207+196G>T
ENST00000299084.8:c.207+196G>T ENSP00000299084.4:n.207+196G>T
ENST00000561205.1:n.545+196G>T
ENST00000561317.1:c.144+196G>T ENSP00000453680.1:n.144+196G>T
NM_152594.2:c.207+196G>T NP_689807.1:n.207+196G>T
XM_005254202.2:c.243+196G>T XP_005254259.1:n.243+196G>T
XM_005254203.3:c.-15-22498G>T XP_005254260.1:n.-15-22498G>T
XM_011521288.1:c.144+196G>T XP_011519590.1:n.144+196G>T
XM_011521289.1:c.144+196G>T XP_011519591.1:n.144+196G>T
XM_011521290.1:c.144+196G>T XP_011519592.1:n.144+196G>T
XM_005254202.3:c.243+196G>T XP_005254259.1:n.243+196G>T
XM_011521289.3:c.144+196G>T XP_011519591.1:n.144+196G>T
NM_152594.3:c.207+196G>T MANE Select NP_689807.1:n.207+196G>T