Canonical Allele Identifier: CA391932916
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.650C>G MANE Select ENSP00000299084.4:p.Ser217Cys
ENST00000299084.8:c.650C>G ENSP00000299084.4:p.Ser217Cys
NM_152594.2:c.650C>G NP_689807.1:p.Ser217Cys
XM_005254202.2:c.686C>G XP_005254259.1:p.Ser229Cys
XM_005254203.3:c.428C>G XP_005254260.1:p.Ser143Cys
XM_011521288.1:c.587C>G XP_011519590.1:p.Ser196Cys
XM_011521289.1:c.587C>G XP_011519591.1:p.Ser196Cys
XM_011521290.1:c.587C>G XP_011519592.1:p.Ser196Cys
XM_005254202.3:c.686C>G XP_005254259.1:p.Ser229Cys
XM_011521289.3:c.587C>G XP_011519591.1:p.Ser196Cys
NM_152594.3:c.650C>G MANE Select NP_689807.1:p.Ser217Cys