Canonical Allele Identifier: CA391933695
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351317G>C , CM000677.2:g.38351317G>C GRCh38
NC_000015.9:g.38643518G>C , CM000677.1:g.38643518G>C GRCh37
NC_000015.8:g.36430810G>C NCBI36
NG_008980.1:g.103467G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.988G>C MANE Select ENSP00000299084.4:p.Gly330Arg
ENST00000299084.8:c.988G>C ENSP00000299084.4:p.Gly330Arg
NM_152594.2:c.988G>C NP_689807.1:p.Gly330Arg
XM_005254202.2:c.1024G>C XP_005254259.1:p.Gly342Arg
XM_005254203.3:c.766G>C XP_005254260.1:p.Gly256Arg
XM_011521288.1:c.925G>C XP_011519590.1:p.Gly309Arg
XM_011521289.1:c.925G>C XP_011519591.1:p.Gly309Arg
XM_011521290.1:c.925G>C XP_011519592.1:p.Gly309Arg
XM_005254202.3:c.1024G>C XP_005254259.1:p.Gly342Arg
XM_011521289.3:c.925G>C XP_011519591.1:p.Gly309Arg
NM_152594.3:c.988G>C MANE Select NP_689807.1:p.Gly330Arg