Canonical Allele Identifier: CA391932811
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38349443T>A , CM000677.2:g.38349443T>A GRCh38
NC_000015.9:g.38641644T>A , CM000677.1:g.38641644T>A GRCh37
NC_000015.8:g.36428936T>A NCBI36
NG_008980.1:g.101593T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.604T>A MANE Select ENSP00000299084.4:p.Leu202Met
ENST00000299084.8:c.604T>A ENSP00000299084.4:p.Leu202Met
NM_152594.2:c.604T>A NP_689807.1:p.Leu202Met
XM_005254202.2:c.640T>A XP_005254259.1:p.Leu214Met
XM_005254203.3:c.382T>A XP_005254260.1:p.Leu128Met
XM_011521288.1:c.541T>A XP_011519590.1:p.Leu181Met
XM_011521289.1:c.541T>A XP_011519591.1:p.Leu181Met
XM_011521290.1:c.541T>A XP_011519592.1:p.Leu181Met
XM_005254202.3:c.640T>A XP_005254259.1:p.Leu214Met
XM_011521289.3:c.541T>A XP_011519591.1:p.Leu181Met
NM_152594.3:c.604T>A MANE Select NP_689807.1:p.Leu202Met