Canonical Allele Identifier: CA391933269
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2721394
ClinVar RCV Id: RCV003499520

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351127G>A , CM000677.2:g.38351127G>A GRCh38
NC_000015.9:g.38643328G>A , CM000677.1:g.38643328G>A GRCh37
NC_000015.8:g.36430620G>A NCBI36
NG_008980.1:g.103277G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.798G>A MANE Select ENSP00000299084.4:p.Met266Ile
ENST00000299084.8:c.798G>A ENSP00000299084.4:p.Met266Ile
NM_152594.2:c.798G>A NP_689807.1:p.Met266Ile
XM_005254202.2:c.834G>A XP_005254259.1:p.Met278Ile
XM_005254203.3:c.576G>A XP_005254260.1:p.Met192Ile
XM_011521288.1:c.735G>A XP_011519590.1:p.Met245Ile
XM_011521289.1:c.735G>A XP_011519591.1:p.Met245Ile
XM_011521290.1:c.735G>A XP_011519592.1:p.Met245Ile
XM_005254202.3:c.834G>A XP_005254259.1:p.Met278Ile
XM_011521289.3:c.735G>A XP_011519591.1:p.Met245Ile
NM_152594.3:c.798G>A MANE Select NP_689807.1:p.Met266Ile