Canonical Allele Identifier: CA391933373
Gene: SPRED1 HGNC NCBI

Linked Data

dbSNP Id: rs1373204659

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351172G>T , CM000677.2:g.38351172G>T GRCh38
NC_000015.9:g.38643373G>T , CM000677.1:g.38643373G>T GRCh37
NC_000015.8:g.36430665G>T NCBI36
NG_008980.1:g.103322G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.843G>T MANE Select ENSP00000299084.4:p.Gln281His
ENST00000299084.8:c.843G>T ENSP00000299084.4:p.Gln281His
NM_152594.2:c.843G>T NP_689807.1:p.Gln281His
XM_005254202.2:c.879G>T XP_005254259.1:p.Gln293His
XM_005254203.3:c.621G>T XP_005254260.1:p.Gln207His
XM_011521288.1:c.780G>T XP_011519590.1:p.Gln260His
XM_011521289.1:c.780G>T XP_011519591.1:p.Gln260His
XM_011521290.1:c.780G>T XP_011519592.1:p.Gln260His
XM_005254202.3:c.879G>T XP_005254259.1:p.Gln293His
XM_011521289.3:c.780G>T XP_011519591.1:p.Gln260His
NM_152594.3:c.843G>T MANE Select NP_689807.1:p.Gln281His