Canonical Allele Identifier: CA726688698

Gene: SHMT1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

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