Canonical Allele Identifier: CA391934237
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351456T>C , CM000677.2:g.38351456T>C GRCh38
NC_000015.9:g.38643657T>C , CM000677.1:g.38643657T>C GRCh37
NC_000015.8:g.36430949T>C NCBI36
NG_008980.1:g.103606T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1127T>C MANE Select ENSP00000299084.4:p.Leu376Ser
ENST00000299084.8:c.1127T>C ENSP00000299084.4:p.Leu376Ser
NM_152594.2:c.1127T>C NP_689807.1:p.Leu376Ser
XM_005254202.2:c.1163T>C XP_005254259.1:p.Leu388Ser
XM_005254203.3:c.905T>C XP_005254260.1:p.Leu302Ser
XM_011521288.1:c.1064T>C XP_011519590.1:p.Leu355Ser
XM_011521289.1:c.1064T>C XP_011519591.1:p.Leu355Ser
XM_011521290.1:c.1064T>C XP_011519592.1:p.Leu355Ser
XM_005254202.3:c.1163T>C XP_005254259.1:p.Leu388Ser
XM_011521289.3:c.1064T>C XP_011519591.1:p.Leu355Ser
NM_152594.3:c.1127T>C MANE Select NP_689807.1:p.Leu376Ser