Canonical Allele Identifier: CA391933453
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351206C>A , CM000677.2:g.38351206C>A GRCh38
NC_000015.9:g.38643407C>A , CM000677.1:g.38643407C>A GRCh37
NC_000015.8:g.36430699C>A NCBI36
NG_008980.1:g.103356C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.877C>A MANE Select ENSP00000299084.4:p.Leu293Met
ENST00000299084.8:c.877C>A ENSP00000299084.4:p.Leu293Met
NM_152594.2:c.877C>A NP_689807.1:p.Leu293Met
XM_005254202.2:c.913C>A XP_005254259.1:p.Leu305Met
XM_005254203.3:c.655C>A XP_005254260.1:p.Leu219Met
XM_011521288.1:c.814C>A XP_011519590.1:p.Leu272Met
XM_011521289.1:c.814C>A XP_011519591.1:p.Leu272Met
XM_011521290.1:c.814C>A XP_011519592.1:p.Leu272Met
XM_005254202.3:c.913C>A XP_005254259.1:p.Leu305Met
XM_011521289.3:c.814C>A XP_011519591.1:p.Leu272Met
NM_152594.3:c.877C>A MANE Select NP_689807.1:p.Leu293Met