Canonical Allele Identifier: CA398629269
Gene: SHMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18328788C>G , CM000679.2:g.18328788C>G GRCh38
NC_000017.10:g.18232102C>G , CM000679.1:g.18232102C>G GRCh37
NC_000017.9:g.18172827C>G NCBI36
NG_017111.1:g.39755G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000583780.2:c.1414G>C ENSP00000462041.2:p.Ala472Pro
ENST00000316694.8:c.1414G>C MANE Select ENSP00000318868.3:p.Ala472Pro
ENST00000316694.7:c.1414G>C ENSP00000318868.3:p.Ala472Pro
ENST00000352886.10:c.1000G>C ENSP00000345881.7:p.Ala334Pro
ENST00000354098.7:c.1297G>C ENSP00000318805.3:p.Ala433Pro
ENST00000395684.5:n.1737G>C
ENST00000580002.5:c.*911G>C ENSP00000462043.1:n.*911G>C
NM_001281786.1:c.1000G>C NP_001268715.1:p.Ala334Pro
NM_004169.4:c.1414G>C NP_004160.3:p.Ala472Pro
NM_148918.2:c.1297G>C NP_683718.1:p.Ala433Pro
XM_005256767.2:c.1414G>C XP_005256824.1:p.Ala472Pro
XM_011523992.1:c.1174G>C XP_011522294.1:p.Ala392Pro
XM_005256767.3:c.1414G>C XP_005256824.1:p.Ala472Pro
XM_011523992.3:c.1174G>C XP_011522294.1:p.Ala392Pro
XM_017024957.1:c.1414G>C XP_016880446.1:p.Ala472Pro
XM_017024958.1:c.1297G>C XP_016880447.1:p.Ala433Pro
XM_024450887.1:c.1174G>C XP_024306655.1:p.Ala392Pro
XM_024450888.1:c.1000G>C XP_024306656.1:p.Ala334Pro
XM_024450889.1:c.883G>C XP_024306657.1:p.Ala295Pro
XM_024450890.1:c.760G>C XP_024306658.1:p.Ala254Pro
NM_004169.5:c.1414G>C MANE Select NP_004160.3:p.Ala472Pro
NM_001281786.2:c.1000G>C NP_001268715.1:p.Ala334Pro
NM_148918.3:c.1297G>C NP_683718.1:p.Ala433Pro