Canonical Allele Identifier: CA391934182
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351442T>G , CM000677.2:g.38351442T>G GRCh38
NC_000015.9:g.38643643T>G , CM000677.1:g.38643643T>G GRCh37
NC_000015.8:g.36430935T>G NCBI36
NG_008980.1:g.103592T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1113T>G MANE Select ENSP00000299084.4:p.Cys371Trp
ENST00000299084.8:c.1113T>G ENSP00000299084.4:p.Cys371Trp
NM_152594.2:c.1113T>G NP_689807.1:p.Cys371Trp
XM_005254202.2:c.1149T>G XP_005254259.1:p.Cys383Trp
XM_005254203.3:c.891T>G XP_005254260.1:p.Cys297Trp
XM_011521288.1:c.1050T>G XP_011519590.1:p.Cys350Trp
XM_011521289.1:c.1050T>G XP_011519591.1:p.Cys350Trp
XM_011521290.1:c.1050T>G XP_011519592.1:p.Cys350Trp
XM_005254202.3:c.1149T>G XP_005254259.1:p.Cys383Trp
XM_011521289.3:c.1050T>G XP_011519591.1:p.Cys350Trp
NM_152594.3:c.1113T>G MANE Select NP_689807.1:p.Cys371Trp