Canonical Allele Identifier: CA391934220
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351452A>C , CM000677.2:g.38351452A>C GRCh38
NC_000015.9:g.38643653A>C , CM000677.1:g.38643653A>C GRCh37
NC_000015.8:g.36430945A>C NCBI36
NG_008980.1:g.103602A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1123A>C MANE Select ENSP00000299084.4:p.Met375Leu
ENST00000299084.8:c.1123A>C ENSP00000299084.4:p.Met375Leu
NM_152594.2:c.1123A>C NP_689807.1:p.Met375Leu
XM_005254202.2:c.1159A>C XP_005254259.1:p.Met387Leu
XM_005254203.3:c.901A>C XP_005254260.1:p.Met301Leu
XM_011521288.1:c.1060A>C XP_011519590.1:p.Met354Leu
XM_011521289.1:c.1060A>C XP_011519591.1:p.Met354Leu
XM_011521290.1:c.1060A>C XP_011519592.1:p.Met354Leu
XM_005254202.3:c.1159A>C XP_005254259.1:p.Met387Leu
XM_011521289.3:c.1060A>C XP_011519591.1:p.Met354Leu
NM_152594.3:c.1123A>C MANE Select NP_689807.1:p.Met375Leu