Canonical Allele Identifier: CA391933775
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351342G>A , CM000677.2:g.38351342G>A GRCh38
NC_000015.9:g.38643543G>A , CM000677.1:g.38643543G>A GRCh37
NC_000015.8:g.36430835G>A NCBI36
NG_008980.1:g.103492G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1013G>A MANE Select ENSP00000299084.4:p.Cys338Tyr
ENST00000299084.8:c.1013G>A ENSP00000299084.4:p.Cys338Tyr
NM_152594.2:c.1013G>A NP_689807.1:p.Cys338Tyr
XM_005254202.2:c.1049G>A XP_005254259.1:p.Cys350Tyr
XM_005254203.3:c.791G>A XP_005254260.1:p.Cys264Tyr
XM_011521288.1:c.950G>A XP_011519590.1:p.Cys317Tyr
XM_011521289.1:c.950G>A XP_011519591.1:p.Cys317Tyr
XM_011521290.1:c.950G>A XP_011519592.1:p.Cys317Tyr
XM_005254202.3:c.1049G>A XP_005254259.1:p.Cys350Tyr
XM_011521289.3:c.950G>A XP_011519591.1:p.Cys317Tyr
NM_152594.3:c.1013G>A MANE Select NP_689807.1:p.Cys338Tyr