Canonical Allele Identifier: CA391933588
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351269C>T , CM000677.2:g.38351269C>T GRCh38
NC_000015.9:g.38643470C>T , CM000677.1:g.38643470C>T GRCh37
NC_000015.8:g.36430762C>T NCBI36
NG_008980.1:g.103419C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.940C>T MANE Select ENSP00000299084.4:p.Gln314Ter
ENST00000299084.8:c.940C>T ENSP00000299084.4:p.Gln314Ter
NM_152594.2:c.940C>T NP_689807.1:p.Gln314Ter
XM_005254202.2:c.976C>T XP_005254259.1:p.Gln326Ter
XM_005254203.3:c.718C>T XP_005254260.1:p.Gln240Ter
XM_011521288.1:c.877C>T XP_011519590.1:p.Gln293Ter
XM_011521289.1:c.877C>T XP_011519591.1:p.Gln293Ter
XM_011521290.1:c.877C>T XP_011519592.1:p.Gln293Ter
XM_005254202.3:c.976C>T XP_005254259.1:p.Gln326Ter
XM_011521289.3:c.877C>T XP_011519591.1:p.Gln293Ter
NM_152594.3:c.940C>T MANE Select NP_689807.1:p.Gln314Ter