Canonical Allele Identifier: CA391932887
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38349474T>A , CM000677.2:g.38349474T>A GRCh38
NC_000015.9:g.38641675T>A , CM000677.1:g.38641675T>A GRCh37
NC_000015.8:g.36428967T>A NCBI36
NG_008980.1:g.101624T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.635T>A MANE Select ENSP00000299084.4:p.Val212Glu
ENST00000299084.8:c.635T>A ENSP00000299084.4:p.Val212Glu
NM_152594.2:c.635T>A NP_689807.1:p.Val212Glu
XM_005254202.2:c.671T>A XP_005254259.1:p.Val224Glu
XM_005254203.3:c.413T>A XP_005254260.1:p.Val138Glu
XM_011521288.1:c.572T>A XP_011519590.1:p.Val191Glu
XM_011521289.1:c.572T>A XP_011519591.1:p.Val191Glu
XM_011521290.1:c.572T>A XP_011519592.1:p.Val191Glu
XM_005254202.3:c.671T>A XP_005254259.1:p.Val224Glu
XM_011521289.3:c.572T>A XP_011519591.1:p.Val191Glu
NM_152594.3:c.635T>A MANE Select NP_689807.1:p.Val212Glu