Canonical Allele Identifier: CA391933372
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351171A>T , CM000677.2:g.38351171A>T GRCh38
NC_000015.9:g.38643372A>T , CM000677.1:g.38643372A>T GRCh37
NC_000015.8:g.36430664A>T NCBI36
NG_008980.1:g.103321A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.842A>T MANE Select ENSP00000299084.4:p.Gln281Leu
ENST00000299084.8:c.842A>T ENSP00000299084.4:p.Gln281Leu
NM_152594.2:c.842A>T NP_689807.1:p.Gln281Leu
XM_005254202.2:c.878A>T XP_005254259.1:p.Gln293Leu
XM_005254203.3:c.620A>T XP_005254260.1:p.Gln207Leu
XM_011521288.1:c.779A>T XP_011519590.1:p.Gln260Leu
XM_011521289.1:c.779A>T XP_011519591.1:p.Gln260Leu
XM_011521290.1:c.779A>T XP_011519592.1:p.Gln260Leu
XM_005254202.3:c.878A>T XP_005254259.1:p.Gln293Leu
XM_011521289.3:c.779A>T XP_011519591.1:p.Gln260Leu
NM_152594.3:c.842A>T MANE Select NP_689807.1:p.Gln281Leu