Canonical Allele Identifier: CA391933964
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1334305
ClinVar RCV Id: RCV001813720
dbSNP Id: rs2140978422

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38299422A>G , CM000677.2:g.38299422A>G GRCh38
NC_000015.9:g.38591623A>G , CM000677.1:g.38591623A>G GRCh37
NC_000015.8:g.36378915A>G NCBI36
NG_008980.1:g.51572A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.82A>G MANE Select ENSP00000299084.4:p.Ser28Gly
ENST00000299084.8:c.82A>G ENSP00000299084.4:p.Ser28Gly
ENST00000561205.1:n.420A>G
ENST00000561317.1:c.19A>G ENSP00000453680.1:p.Ser7Gly
NM_152594.2:c.82A>G NP_689807.1:p.Ser28Gly
XM_005254202.2:c.118A>G XP_005254259.1:p.Ser40Gly
XM_005254203.3:c.-15-22819A>G XP_005254260.1:n.-15-22819A>G
XM_011521288.1:c.19A>G XP_011519590.1:p.Ser7Gly
XM_011521289.1:c.19A>G XP_011519591.1:p.Ser7Gly
XM_011521290.1:c.19A>G XP_011519592.1:p.Ser7Gly
XM_005254202.3:c.118A>G XP_005254259.1:p.Ser40Gly
XM_011521289.3:c.19A>G XP_011519591.1:p.Ser7Gly
NM_152594.3:c.82A>G MANE Select NP_689807.1:p.Ser28Gly