Canonical Allele Identifier: CA391933304
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351141T>A , CM000677.2:g.38351141T>A GRCh38
NC_000015.9:g.38643342T>A , CM000677.1:g.38643342T>A GRCh37
NC_000015.8:g.36430634T>A NCBI36
NG_008980.1:g.103291T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.812T>A MANE Select ENSP00000299084.4:p.Leu271Ter
ENST00000299084.8:c.812T>A ENSP00000299084.4:p.Leu271Ter
NM_152594.2:c.812T>A NP_689807.1:p.Leu271Ter
XM_005254202.2:c.848T>A XP_005254259.1:p.Leu283Ter
XM_005254203.3:c.590T>A XP_005254260.1:p.Leu197Ter
XM_011521288.1:c.749T>A XP_011519590.1:p.Leu250Ter
XM_011521289.1:c.749T>A XP_011519591.1:p.Leu250Ter
XM_011521290.1:c.749T>A XP_011519592.1:p.Leu250Ter
XM_005254202.3:c.848T>A XP_005254259.1:p.Leu283Ter
XM_011521289.3:c.749T>A XP_011519591.1:p.Leu250Ter
NM_152594.3:c.812T>A MANE Select NP_689807.1:p.Leu271Ter