Canonical Allele Identifier: CA391933025
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351023A>C , CM000677.2:g.38351023A>C GRCh38
NC_000015.9:g.38643224A>C , CM000677.1:g.38643224A>C GRCh37
NC_000015.8:g.36430516A>C NCBI36
NG_008980.1:g.103173A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.694A>C MANE Select ENSP00000299084.4:p.Lys232Gln
ENST00000299084.8:c.694A>C ENSP00000299084.4:p.Lys232Gln
NM_152594.2:c.694A>C NP_689807.1:p.Lys232Gln
XM_005254202.2:c.730A>C XP_005254259.1:p.Lys244Gln
XM_005254203.3:c.472A>C XP_005254260.1:p.Lys158Gln
XM_011521288.1:c.631A>C XP_011519590.1:p.Lys211Gln
XM_011521289.1:c.631A>C XP_011519591.1:p.Lys211Gln
XM_011521290.1:c.631A>C XP_011519592.1:p.Lys211Gln
XM_005254202.3:c.730A>C XP_005254259.1:p.Lys244Gln
XM_011521289.3:c.631A>C XP_011519591.1:p.Lys211Gln
NM_152594.3:c.694A>C MANE Select NP_689807.1:p.Lys232Gln