Canonical Allele Identifier: CA490012570
Gene: SPRED1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.38643751G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351550G>A , CM000677.2:g.38351550G>A GRCh38
NC_000015.9:g.38643751G>A , CM000677.1:g.38643751G>A GRCh37
NC_000015.8:g.36431043G>A NCBI36
NG_008980.1:g.103700G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1221G>A MANE Select ENSP00000299084.4:p.Leu407=
ENST00000299084.8:c.1221G>A ENSP00000299084.4:p.Leu407=
NM_152594.2:c.1221G>A NP_689807.1:p.Leu407=
XM_005254202.2:c.1257G>A XP_005254259.1:p.Leu419=
XM_005254203.3:c.999G>A XP_005254260.1:p.Leu333=
XM_011521288.1:c.1158G>A XP_011519590.1:p.Leu386=
XM_011521289.1:c.1158G>A XP_011519591.1:p.Leu386=
XM_011521290.1:c.1158G>A XP_011519592.1:p.Leu386=
XM_005254202.3:c.1257G>A XP_005254259.1:p.Leu419=
XM_011521289.3:c.1158G>A XP_011519591.1:p.Leu386=
NM_152594.3:c.1221G>A MANE Select NP_689807.1:p.Leu407=