Canonical Allele Identifier: CA14374236
Gene: SHMT1 HGNC NCBI
COSMIC:
COSN6654276 (not active)
MyVariant.info:
GRCh38 chr17:g.18328684G>A
GRCh37 chr17:g.18231998G>A
gnomAD v2:
17:18231998 G / A
gnomAD v3:
17:18328684 G / A
gnomAD v4:
chr17-18328684-G-A
Joint Max Group AF 0.61148815 (AFR)
Genomes Max Group AF 0.60779272 (AFR)
Exomes Max Group AF 0.61183775 (AFR)
dbSNP:
1979276
JSON-LD

Genomic Alleles

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

Transcript Alleles

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