Canonical Allele Identifier: CA391933289
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351134A>T , CM000677.2:g.38351134A>T GRCh38
NC_000015.9:g.38643335A>T , CM000677.1:g.38643335A>T GRCh37
NC_000015.8:g.36430627A>T NCBI36
NG_008980.1:g.103284A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.805A>T MANE Select ENSP00000299084.4:p.Asn269Tyr
ENST00000299084.8:c.805A>T ENSP00000299084.4:p.Asn269Tyr
NM_152594.2:c.805A>T NP_689807.1:p.Asn269Tyr
XM_005254202.2:c.841A>T XP_005254259.1:p.Asn281Tyr
XM_005254203.3:c.583A>T XP_005254260.1:p.Asn195Tyr
XM_011521288.1:c.742A>T XP_011519590.1:p.Asn248Tyr
XM_011521289.1:c.742A>T XP_011519591.1:p.Asn248Tyr
XM_011521290.1:c.742A>T XP_011519592.1:p.Asn248Tyr
XM_005254202.3:c.841A>T XP_005254259.1:p.Asn281Tyr
XM_011521289.3:c.742A>T XP_011519591.1:p.Asn248Tyr
NM_152594.3:c.805A>T MANE Select NP_689807.1:p.Asn269Tyr