Canonical Allele Identifier: CA391933883
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 546459
ClinVar RCV Id: RCV000658339
dbSNP Id: rs1555389685

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38299406G>T , CM000677.2:g.38299406G>T GRCh38
NC_000015.9:g.38591607G>T , CM000677.1:g.38591607G>T GRCh37
NC_000015.8:g.36378899G>T NCBI36
NG_008980.1:g.51556G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.66G>T MANE Select ENSP00000299084.4:p.Met22Ile
ENST00000299084.8:c.66G>T ENSP00000299084.4:p.Met22Ile
ENST00000561205.1:n.404G>T
ENST00000561317.1:c.3G>T ENSP00000453680.1:p.Met1Ile
NM_152594.2:c.66G>T NP_689807.1:p.Met22Ile
XM_005254202.2:c.102G>T XP_005254259.1:p.Met34Ile
XM_005254203.3:c.-15-22835G>T XP_005254260.1:n.-15-22835G>T
XM_011521288.1:c.3G>T XP_011519590.1:p.Met1Ile
XM_011521289.1:c.3G>T XP_011519591.1:p.Met1Ile
XM_011521290.1:c.3G>T XP_011519592.1:p.Met1Ile
XM_005254202.3:c.102G>T XP_005254259.1:p.Met34Ile
XM_011521289.3:c.3G>T XP_011519591.1:p.Met1Ile
NM_152594.3:c.66G>T MANE Select NP_689807.1:p.Met22Ile