Canonical Allele Identifier: CA391934722
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351594C>T , CM000677.2:g.38351594C>T GRCh38
NC_000015.9:g.38643795C>T , CM000677.1:g.38643795C>T GRCh37
NC_000015.8:g.36431087C>T NCBI36
NG_008980.1:g.103744C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1265C>T MANE Select ENSP00000299084.4:p.Pro422Leu
ENST00000299084.8:c.1265C>T ENSP00000299084.4:p.Pro422Leu
NM_152594.2:c.1265C>T NP_689807.1:p.Pro422Leu
XM_005254202.2:c.1301C>T XP_005254259.1:p.Pro434Leu
XM_005254203.3:c.1043C>T XP_005254260.1:p.Pro348Leu
XM_011521288.1:c.1202C>T XP_011519590.1:p.Pro401Leu
XM_011521289.1:c.1202C>T XP_011519591.1:p.Pro401Leu
XM_011521290.1:c.1202C>T XP_011519592.1:p.Pro401Leu
XM_005254202.3:c.1301C>T XP_005254259.1:p.Pro434Leu
XM_011521289.3:c.1202C>T XP_011519591.1:p.Pro401Leu
NM_152594.3:c.1265C>T MANE Select NP_689807.1:p.Pro422Leu