Canonical Allele Identifier: CA391934761
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351610T>G , CM000677.2:g.38351610T>G GRCh38
NC_000015.9:g.38643811T>G , CM000677.1:g.38643811T>G GRCh37
NC_000015.8:g.36431103T>G NCBI36
NG_008980.1:g.103760T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1281T>G MANE Select ENSP00000299084.4:p.His427Gln
ENST00000299084.8:c.1281T>G ENSP00000299084.4:p.His427Gln
NM_152594.2:c.1281T>G NP_689807.1:p.His427Gln
XM_005254202.2:c.1317T>G XP_005254259.1:p.His439Gln
XM_005254203.3:c.1059T>G XP_005254260.1:p.His353Gln
XM_011521288.1:c.1218T>G XP_011519590.1:p.His406Gln
XM_011521289.1:c.1218T>G XP_011519591.1:p.His406Gln
XM_011521290.1:c.1218T>G XP_011519592.1:p.His406Gln
XM_005254202.3:c.1317T>G XP_005254259.1:p.His439Gln
XM_011521289.3:c.1218T>G XP_011519591.1:p.His406Gln
NM_152594.3:c.1281T>G MANE Select NP_689807.1:p.His427Gln