Canonical Allele Identifier: CA391933423
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351192A>G , CM000677.2:g.38351192A>G GRCh38
NC_000015.9:g.38643393A>G , CM000677.1:g.38643393A>G GRCh37
NC_000015.8:g.36430685A>G NCBI36
NG_008980.1:g.103342A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.863A>G MANE Select ENSP00000299084.4:p.Lys288Arg
ENST00000299084.8:c.863A>G ENSP00000299084.4:p.Lys288Arg
NM_152594.2:c.863A>G NP_689807.1:p.Lys288Arg
XM_005254202.2:c.899A>G XP_005254259.1:p.Lys300Arg
XM_005254203.3:c.641A>G XP_005254260.1:p.Lys214Arg
XM_011521288.1:c.800A>G XP_011519590.1:p.Lys267Arg
XM_011521289.1:c.800A>G XP_011519591.1:p.Lys267Arg
XM_011521290.1:c.800A>G XP_011519592.1:p.Lys267Arg
XM_005254202.3:c.899A>G XP_005254259.1:p.Lys300Arg
XM_011521289.3:c.800A>G XP_011519591.1:p.Lys267Arg
NM_152594.3:c.863A>G MANE Select NP_689807.1:p.Lys288Arg