Canonical Allele Identifier: CA391933154
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351077C>G , CM000677.2:g.38351077C>G GRCh38
NC_000015.9:g.38643278C>G , CM000677.1:g.38643278C>G GRCh37
NC_000015.8:g.36430570C>G NCBI36
NG_008980.1:g.103227C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.748C>G MANE Select ENSP00000299084.4:p.Pro250Ala
ENST00000299084.8:c.748C>G ENSP00000299084.4:p.Pro250Ala
NM_152594.2:c.748C>G NP_689807.1:p.Pro250Ala
XM_005254202.2:c.784C>G XP_005254259.1:p.Pro262Ala
XM_005254203.3:c.526C>G XP_005254260.1:p.Pro176Ala
XM_011521288.1:c.685C>G XP_011519590.1:p.Pro229Ala
XM_011521289.1:c.685C>G XP_011519591.1:p.Pro229Ala
XM_011521290.1:c.685C>G XP_011519592.1:p.Pro229Ala
XM_005254202.3:c.784C>G XP_005254259.1:p.Pro262Ala
XM_011521289.3:c.685C>G XP_011519591.1:p.Pro229Ala
NM_152594.3:c.748C>G MANE Select NP_689807.1:p.Pro250Ala