Canonical Allele Identifier: CA391932868
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38349466G>T , CM000677.2:g.38349466G>T GRCh38
NC_000015.9:g.38641667G>T , CM000677.1:g.38641667G>T GRCh37
NC_000015.8:g.36428959G>T NCBI36
NG_008980.1:g.101616G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.627G>T MANE Select ENSP00000299084.4:p.Met209Ile
ENST00000299084.8:c.627G>T ENSP00000299084.4:p.Met209Ile
NM_152594.2:c.627G>T NP_689807.1:p.Met209Ile
XM_005254202.2:c.663G>T XP_005254259.1:p.Met221Ile
XM_005254203.3:c.405G>T XP_005254260.1:p.Met135Ile
XM_011521288.1:c.564G>T XP_011519590.1:p.Met188Ile
XM_011521289.1:c.564G>T XP_011519591.1:p.Met188Ile
XM_011521290.1:c.564G>T XP_011519592.1:p.Met188Ile
XM_005254202.3:c.663G>T XP_005254259.1:p.Met221Ile
XM_011521289.3:c.564G>T XP_011519591.1:p.Met188Ile
NM_152594.3:c.627G>T MANE Select NP_689807.1:p.Met209Ile