Canonical Allele Identifier: CA391933616
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351283A>T , CM000677.2:g.38351283A>T GRCh38
NC_000015.9:g.38643484A>T , CM000677.1:g.38643484A>T GRCh37
NC_000015.8:g.36430776A>T NCBI36
NG_008980.1:g.103433A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.954A>T MANE Select ENSP00000299084.4:p.Leu318Phe
ENST00000299084.8:c.954A>T ENSP00000299084.4:p.Leu318Phe
NM_152594.2:c.954A>T NP_689807.1:p.Leu318Phe
XM_005254202.2:c.990A>T XP_005254259.1:p.Leu330Phe
XM_005254203.3:c.732A>T XP_005254260.1:p.Leu244Phe
XM_011521288.1:c.891A>T XP_011519590.1:p.Leu297Phe
XM_011521289.1:c.891A>T XP_011519591.1:p.Leu297Phe
XM_011521290.1:c.891A>T XP_011519592.1:p.Leu297Phe
XM_005254202.3:c.990A>T XP_005254259.1:p.Leu330Phe
XM_011521289.3:c.891A>T XP_011519591.1:p.Leu297Phe
NM_152594.3:c.954A>T MANE Select NP_689807.1:p.Leu318Phe