Canonical Allele Identifier: CA391933678
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351310A>C , CM000677.2:g.38351310A>C GRCh38
NC_000015.9:g.38643511A>C , CM000677.1:g.38643511A>C GRCh37
NC_000015.8:g.36430803A>C NCBI36
NG_008980.1:g.103460A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.981A>C MANE Select ENSP00000299084.4:p.Lys327Asn
ENST00000299084.8:c.981A>C ENSP00000299084.4:p.Lys327Asn
NM_152594.2:c.981A>C NP_689807.1:p.Lys327Asn
XM_005254202.2:c.1017A>C XP_005254259.1:p.Lys339Asn
XM_005254203.3:c.759A>C XP_005254260.1:p.Lys253Asn
XM_011521288.1:c.918A>C XP_011519590.1:p.Lys306Asn
XM_011521289.1:c.918A>C XP_011519591.1:p.Lys306Asn
XM_011521290.1:c.918A>C XP_011519592.1:p.Lys306Asn
XM_005254202.3:c.1017A>C XP_005254259.1:p.Lys339Asn
XM_011521289.3:c.918A>C XP_011519591.1:p.Lys306Asn
NM_152594.3:c.981A>C MANE Select NP_689807.1:p.Lys327Asn