Canonical Allele Identifier: CA391933673
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351308A>G , CM000677.2:g.38351308A>G GRCh38
NC_000015.9:g.38643509A>G , CM000677.1:g.38643509A>G GRCh37
NC_000015.8:g.36430801A>G NCBI36
NG_008980.1:g.103458A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.979A>G MANE Select ENSP00000299084.4:p.Lys327Glu
ENST00000299084.8:c.979A>G ENSP00000299084.4:p.Lys327Glu
NM_152594.2:c.979A>G NP_689807.1:p.Lys327Glu
XM_005254202.2:c.1015A>G XP_005254259.1:p.Lys339Glu
XM_005254203.3:c.757A>G XP_005254260.1:p.Lys253Glu
XM_011521288.1:c.916A>G XP_011519590.1:p.Lys306Glu
XM_011521289.1:c.916A>G XP_011519591.1:p.Lys306Glu
XM_011521290.1:c.916A>G XP_011519592.1:p.Lys306Glu
XM_005254202.3:c.1015A>G XP_005254259.1:p.Lys339Glu
XM_011521289.3:c.916A>G XP_011519591.1:p.Lys306Glu
NM_152594.3:c.979A>G MANE Select NP_689807.1:p.Lys327Glu