Canonical Allele Identifier: CA391933361
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351167A>C , CM000677.2:g.38351167A>C GRCh38
NC_000015.9:g.38643368A>C , CM000677.1:g.38643368A>C GRCh37
NC_000015.8:g.36430660A>C NCBI36
NG_008980.1:g.103317A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.838A>C MANE Select ENSP00000299084.4:p.Ile280Leu
ENST00000299084.8:c.838A>C ENSP00000299084.4:p.Ile280Leu
NM_152594.2:c.838A>C NP_689807.1:p.Ile280Leu
XM_005254202.2:c.874A>C XP_005254259.1:p.Ile292Leu
XM_005254203.3:c.616A>C XP_005254260.1:p.Ile206Leu
XM_011521288.1:c.775A>C XP_011519590.1:p.Ile259Leu
XM_011521289.1:c.775A>C XP_011519591.1:p.Ile259Leu
XM_011521290.1:c.775A>C XP_011519592.1:p.Ile259Leu
XM_005254202.3:c.874A>C XP_005254259.1:p.Ile292Leu
XM_011521289.3:c.775A>C XP_011519591.1:p.Ile259Leu
NM_152594.3:c.838A>C MANE Select NP_689807.1:p.Ile280Leu