Canonical Allele Identifier: CA2250967721
Community Standard Title: NM_004169.5(SHMT1):c.*66C=
Gene: SHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18328684G= , CM000679.2:g.18328684G= GRCh38
NC_000017.10:g.18231998G= , CM000679.1:g.18231998G= GRCh37
NC_000017.9:g.18172723G= NCBI36
NG_017111.1:g.39859C=

Transcript Alleles

HGVS Amino-acid Change
NM_004169.5:c.*66C= MANE Select NP_004160.3:n.*66C=
ENST00000316694.8:c.*66C= MANE Select ENSP00000318868.3:n.*66C=
NM_001281786.1:c.*66C= NP_001268715.1:n.*66C=
NM_001281786.2:c.*66C= NP_001268715.1:n.*66C=
NM_004169.4:c.*66C= NP_004160.3:n.*66C=
NM_148918.2:c.*66C= NP_683718.1:n.*66C=
NM_148918.3:c.*66C= NP_683718.1:n.*66C=
ENST00000316694.7:c.*66C= ENSP00000318868.3:n.*66C=
ENST00000352886.10:c.*66C= ENSP00000345881.7:n.*66C=
ENST00000354098.7:c.*66C= ENSP00000318805.3:n.*66C=
ENST00000395684.5:n.1841C=
ENST00000580002.5:c.*1015C= ENSP00000462043.1:n.*1015C=
ENST00000583780.2:c.*66C= ENSP00000462041.2:n.*66C=
XM_005256767.2:c.*66C= XP_005256824.1:n.*66C=
XM_005256767.3:c.*66C= XP_005256824.1:n.*66C=
XM_011523992.1:c.*66C= XP_011522294.1:n.*66C=
XM_011523992.3:c.*66C= XP_011522294.1:n.*66C=
XM_017024957.1:c.*66C= XP_016880446.1:n.*66C=
XM_017024958.1:c.*66C= XP_016880447.1:n.*66C=
XM_024450887.1:c.*66C= XP_024306655.1:n.*66C=
XM_024450888.1:c.*66C= XP_024306656.1:n.*66C=
XM_024450889.1:c.*66C= XP_024306657.1:n.*66C=
XM_024450890.1:c.*66C= XP_024306658.1:n.*66C=