Canonical Allele Identifier: CA391934475
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351516G>T , CM000677.2:g.38351516G>T GRCh38
NC_000015.9:g.38643717G>T , CM000677.1:g.38643717G>T GRCh37
NC_000015.8:g.36431009G>T NCBI36
NG_008980.1:g.103666G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1187G>T MANE Select ENSP00000299084.4:p.Ser396Ile
ENST00000299084.8:c.1187G>T ENSP00000299084.4:p.Ser396Ile
NM_152594.2:c.1187G>T NP_689807.1:p.Ser396Ile
XM_005254202.2:c.1223G>T XP_005254259.1:p.Ser408Ile
XM_005254203.3:c.965G>T XP_005254260.1:p.Ser322Ile
XM_011521288.1:c.1124G>T XP_011519590.1:p.Ser375Ile
XM_011521289.1:c.1124G>T XP_011519591.1:p.Ser375Ile
XM_011521290.1:c.1124G>T XP_011519592.1:p.Ser375Ile
XM_005254202.3:c.1223G>T XP_005254259.1:p.Ser408Ile
XM_011521289.3:c.1124G>T XP_011519591.1:p.Ser375Ile
NM_152594.3:c.1187G>T MANE Select NP_689807.1:p.Ser396Ile