Canonical Allele Identifier: CA391933617
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351284A>C , CM000677.2:g.38351284A>C GRCh38
NC_000015.9:g.38643485A>C , CM000677.1:g.38643485A>C GRCh37
NC_000015.8:g.36430777A>C NCBI36
NG_008980.1:g.103434A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.955A>C MANE Select ENSP00000299084.4:p.Lys319Gln
ENST00000299084.8:c.955A>C ENSP00000299084.4:p.Lys319Gln
NM_152594.2:c.955A>C NP_689807.1:p.Lys319Gln
XM_005254202.2:c.991A>C XP_005254259.1:p.Lys331Gln
XM_005254203.3:c.733A>C XP_005254260.1:p.Lys245Gln
XM_011521288.1:c.892A>C XP_011519590.1:p.Lys298Gln
XM_011521289.1:c.892A>C XP_011519591.1:p.Lys298Gln
XM_011521290.1:c.892A>C XP_011519592.1:p.Lys298Gln
XM_005254202.3:c.991A>C XP_005254259.1:p.Lys331Gln
XM_011521289.3:c.892A>C XP_011519591.1:p.Lys298Gln
NM_152594.3:c.955A>C MANE Select NP_689807.1:p.Lys319Gln