Canonical Allele Identifier: CA398629278

Gene: SHMT1

Linked Data

• MyVariant Identifiers: chr17:g.18232104A>C (hg19) ; chr17:g.18328790A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18328790A>C , CM000679.2:g.18328790A>C	GRCh38
NC_000017.10:g.18232104A>C , CM000679.1:g.18232104A>C	GRCh37
NC_000017.9:g.18172829A>C	NCBI36
NG_017111.1:g.39753T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583780.2:c.1412T>G	ENSP00000462041.2:p.Phe471Cys
ENST00000316694.8:c.1412T>G MANE Select	ENSP00000318868.3:p.Phe471Cys
ENST00000316694.7:c.1412T>G	ENSP00000318868.3:p.Phe471Cys
ENST00000352886.10:c.998T>G	ENSP00000345881.7:p.Phe333Cys
ENST00000354098.7:c.1295T>G	ENSP00000318805.3:p.Phe432Cys
ENST00000395684.5:n.1735T>G
ENST00000580002.5:c.*909T>G	ENSP00000462043.1:n.*909T>G
NM_001281786.1:c.998T>G	NP_001268715.1:p.Phe333Cys
NM_004169.4:c.1412T>G	NP_004160.3:p.Phe471Cys
NM_148918.2:c.1295T>G	NP_683718.1:p.Phe432Cys
XM_005256767.2:c.1412T>G	XP_005256824.1:p.Phe471Cys
XM_011523992.1:c.1172T>G	XP_011522294.1:p.Phe391Cys
XM_005256767.3:c.1412T>G	XP_005256824.1:p.Phe471Cys
XM_011523992.3:c.1172T>G	XP_011522294.1:p.Phe391Cys
XM_017024957.1:c.1412T>G	XP_016880446.1:p.Phe471Cys
XM_017024958.1:c.1295T>G	XP_016880447.1:p.Phe432Cys
XM_024450887.1:c.1172T>G	XP_024306655.1:p.Phe391Cys
XM_024450888.1:c.998T>G	XP_024306656.1:p.Phe333Cys
XM_024450889.1:c.881T>G	XP_024306657.1:p.Phe294Cys
XM_024450890.1:c.758T>G	XP_024306658.1:p.Phe253Cys
NM_004169.5:c.1412T>G MANE Select	NP_004160.3:p.Phe471Cys
NM_001281786.2:c.998T>G	NP_001268715.1:p.Phe333Cys
NM_148918.3:c.1295T>G	NP_683718.1:p.Phe432Cys