Canonical Allele Identifier: CA2803803437
Gene: SPRED1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38252938G>A , CM000677.2:g.38252938G>A GRCh38
NC_000015.9:g.38545139G>A , CM000677.1:g.38545139G>A GRCh37
NC_000015.8:g.36332431G>A NCBI36
NG_008980.1:g.5088G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.-248G>A MANE Select ENSP00000299084.4:n.-248G>A
ENST00000299084.8:c.-248G>A ENSP00000299084.4:n.-248G>A
ENST00000561205.1:n.91G>A
NM_152594.2:c.-248G>A NP_689807.1:n.-248G>A
XM_005254202.2:c.-248G>A XP_005254259.1:n.-248G>A
XM_005254203.3:c.-295G>A XP_005254260.1:n.-295G>A
XM_005254202.3:c.-248G>A XP_005254259.1:n.-248G>A
XR_001751484.1:n.87+629C>T
NM_152594.3:c.-248G>A MANE Select NP_689807.1:n.-248G>A
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