Canonical Allele Identifier: CA2170813051
Gene: SPRED1 HGNC NCBI

Linked Data

dbSNP Id: rs1888505489
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38352218T>A , CM000677.2:g.38352218T>A GRCh38
NC_000015.9:g.38644419T>A , CM000677.1:g.38644419T>A GRCh37
NC_000015.8:g.36431711T>A NCBI36
NG_008980.1:g.104368T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.*554T>A MANE Select ENSP00000299084.4:n.*554T>A
ENST00000299084.8:c.*554T>A ENSP00000299084.4:n.*554T>A
NM_152594.2:c.*554T>A NP_689807.1:n.*554T>A
XM_005254202.2:c.*554T>A XP_005254259.1:n.*554T>A
XM_005254203.3:c.*554T>A XP_005254260.1:n.*554T>A
XM_011521288.1:c.*554T>A XP_011519590.1:n.*554T>A
XM_011521289.1:c.*554T>A XP_011519591.1:n.*554T>A
XM_011521290.1:c.*554T>A XP_011519592.1:n.*554T>A
XM_005254202.3:c.*554T>A XP_005254259.1:n.*554T>A
XM_011521289.3:c.*554T>A XP_011519591.1:n.*554T>A
NM_152594.3:c.*554T>A MANE Select NP_689807.1:n.*554T>A
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