Canonical Allele Identifier: CA391933044
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351030T>G , CM000677.2:g.38351030T>G GRCh38
NC_000015.9:g.38643231T>G , CM000677.1:g.38643231T>G GRCh37
NC_000015.8:g.36430523T>G NCBI36
NG_008980.1:g.103180T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.701T>G MANE Select ENSP00000299084.4:p.Ile234Ser
ENST00000299084.8:c.701T>G ENSP00000299084.4:p.Ile234Ser
NM_152594.2:c.701T>G NP_689807.1:p.Ile234Ser
XM_005254202.2:c.737T>G XP_005254259.1:p.Ile246Ser
XM_005254203.3:c.479T>G XP_005254260.1:p.Ile160Ser
XM_011521288.1:c.638T>G XP_011519590.1:p.Ile213Ser
XM_011521289.1:c.638T>G XP_011519591.1:p.Ile213Ser
XM_011521290.1:c.638T>G XP_011519592.1:p.Ile213Ser
XM_005254202.3:c.737T>G XP_005254259.1:p.Ile246Ser
XM_011521289.3:c.638T>G XP_011519591.1:p.Ile213Ser
NM_152594.3:c.701T>G MANE Select NP_689807.1:p.Ile234Ser