Canonical Allele Identifier: CA391933590
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351270A>T , CM000677.2:g.38351270A>T GRCh38
NC_000015.9:g.38643471A>T , CM000677.1:g.38643471A>T GRCh37
NC_000015.8:g.36430763A>T NCBI36
NG_008980.1:g.103420A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.941A>T MANE Select ENSP00000299084.4:p.Gln314Leu
ENST00000299084.8:c.941A>T ENSP00000299084.4:p.Gln314Leu
NM_152594.2:c.941A>T NP_689807.1:p.Gln314Leu
XM_005254202.2:c.977A>T XP_005254259.1:p.Gln326Leu
XM_005254203.3:c.719A>T XP_005254260.1:p.Gln240Leu
XM_011521288.1:c.878A>T XP_011519590.1:p.Gln293Leu
XM_011521289.1:c.878A>T XP_011519591.1:p.Gln293Leu
XM_011521290.1:c.878A>T XP_011519592.1:p.Gln293Leu
XM_005254202.3:c.977A>T XP_005254259.1:p.Gln326Leu
XM_011521289.3:c.878A>T XP_011519591.1:p.Gln293Leu
NM_152594.3:c.941A>T MANE Select NP_689807.1:p.Gln314Leu