Canonical Allele Identifier: CA391932844
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38349457C>A , CM000677.2:g.38349457C>A GRCh38
NC_000015.9:g.38641658C>A , CM000677.1:g.38641658C>A GRCh37
NC_000015.8:g.36428950C>A NCBI36
NG_008980.1:g.101607C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.618C>A MANE Select ENSP00000299084.4:p.Ser206Arg
ENST00000299084.8:c.618C>A ENSP00000299084.4:p.Ser206Arg
NM_152594.2:c.618C>A NP_689807.1:p.Ser206Arg
XM_005254202.2:c.654C>A XP_005254259.1:p.Ser218Arg
XM_005254203.3:c.396C>A XP_005254260.1:p.Ser132Arg
XM_011521288.1:c.555C>A XP_011519590.1:p.Ser185Arg
XM_011521289.1:c.555C>A XP_011519591.1:p.Ser185Arg
XM_011521290.1:c.555C>A XP_011519592.1:p.Ser185Arg
XM_005254202.3:c.654C>A XP_005254259.1:p.Ser218Arg
XM_011521289.3:c.555C>A XP_011519591.1:p.Ser185Arg
NM_152594.3:c.618C>A MANE Select NP_689807.1:p.Ser206Arg