Canonical Allele Identifier: CA391932915
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38349489C>A , CM000677.2:g.38349489C>A GRCh38
NC_000015.9:g.38641690C>A , CM000677.1:g.38641690C>A GRCh37
NC_000015.8:g.36428982C>A NCBI36
NG_008980.1:g.101639C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.650C>A MANE Select ENSP00000299084.4:p.Ser217Tyr
ENST00000299084.8:c.650C>A ENSP00000299084.4:p.Ser217Tyr
NM_152594.2:c.650C>A NP_689807.1:p.Ser217Tyr
XM_005254202.2:c.686C>A XP_005254259.1:p.Ser229Tyr
XM_005254203.3:c.428C>A XP_005254260.1:p.Ser143Tyr
XM_011521288.1:c.587C>A XP_011519590.1:p.Ser196Tyr
XM_011521289.1:c.587C>A XP_011519591.1:p.Ser196Tyr
XM_011521290.1:c.587C>A XP_011519592.1:p.Ser196Tyr
XM_005254202.3:c.686C>A XP_005254259.1:p.Ser229Tyr
XM_011521289.3:c.587C>A XP_011519591.1:p.Ser196Tyr
NM_152594.3:c.650C>A MANE Select NP_689807.1:p.Ser217Tyr