Canonical Allele Identifier: CA391933178
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351088C>G , CM000677.2:g.38351088C>G GRCh38
NC_000015.9:g.38643289C>G , CM000677.1:g.38643289C>G GRCh37
NC_000015.8:g.36430581C>G NCBI36
NG_008980.1:g.103238C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.759C>G MANE Select ENSP00000299084.4:p.Ile253Met
ENST00000299084.8:c.759C>G ENSP00000299084.4:p.Ile253Met
NM_152594.2:c.759C>G NP_689807.1:p.Ile253Met
XM_005254202.2:c.795C>G XP_005254259.1:p.Ile265Met
XM_005254203.3:c.537C>G XP_005254260.1:p.Ile179Met
XM_011521288.1:c.696C>G XP_011519590.1:p.Ile232Met
XM_011521289.1:c.696C>G XP_011519591.1:p.Ile232Met
XM_011521290.1:c.696C>G XP_011519592.1:p.Ile232Met
XM_005254202.3:c.795C>G XP_005254259.1:p.Ile265Met
XM_011521289.3:c.696C>G XP_011519591.1:p.Ile232Met
NM_152594.3:c.759C>G MANE Select NP_689807.1:p.Ile253Met