Canonical Allele Identifier: CA391933988
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351393C>T , CM000677.2:g.38351393C>T GRCh38
NC_000015.9:g.38643594C>T , CM000677.1:g.38643594C>T GRCh37
NC_000015.8:g.36430886C>T NCBI36
NG_008980.1:g.103543C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1064C>T MANE Select ENSP00000299084.4:p.Ala355Val
ENST00000299084.8:c.1064C>T ENSP00000299084.4:p.Ala355Val
NM_152594.2:c.1064C>T NP_689807.1:p.Ala355Val
XM_005254202.2:c.1100C>T XP_005254259.1:p.Ala367Val
XM_005254203.3:c.842C>T XP_005254260.1:p.Ala281Val
XM_011521288.1:c.1001C>T XP_011519590.1:p.Ala334Val
XM_011521289.1:c.1001C>T XP_011519591.1:p.Ala334Val
XM_011521290.1:c.1001C>T XP_011519592.1:p.Ala334Val
XM_005254202.3:c.1100C>T XP_005254259.1:p.Ala367Val
XM_011521289.3:c.1001C>T XP_011519591.1:p.Ala334Val
NM_152594.3:c.1064C>T MANE Select NP_689807.1:p.Ala355Val