Canonical Allele Identifier: CA8431049

Gene: SHMT1

Linked Data

• dbSNP Id: rs752261133
• ExAC: 17:18232098 G / A
• gnomAD v2: 17-18232098-G-A
• gnomAD v4: 17-18328784-G-A
• MyVariant Identifiers: chr17:g.18232098G>A (hg19) ; chr17:g.18328784G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18328784G>A , CM000679.2:g.18328784G>A	GRCh38
NC_000017.10:g.18232098G>A , CM000679.1:g.18232098G>A	GRCh37
NC_000017.9:g.18172823G>A	NCBI36
NG_017111.1:g.39759C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583780.2:c.1418C>T	ENSP00000462041.2:p.Ser473Phe
ENST00000316694.8:c.1418C>T MANE Select	ENSP00000318868.3:p.Ser473Phe
ENST00000316694.7:c.1418C>T	ENSP00000318868.3:p.Ser473Phe
ENST00000352886.10:c.1004C>T	ENSP00000345881.7:p.Ser335Phe
ENST00000354098.7:c.1301C>T	ENSP00000318805.3:p.Ser434Phe
ENST00000395684.5:n.1741C>T
ENST00000580002.5:c.*915C>T	ENSP00000462043.1:n.*915C>T
NM_001281786.1:c.1004C>T	NP_001268715.1:p.Ser335Phe
NM_004169.4:c.1418C>T	NP_004160.3:p.Ser473Phe
NM_148918.2:c.1301C>T	NP_683718.1:p.Ser434Phe
XM_005256767.2:c.1418C>T	XP_005256824.1:p.Ser473Phe
XM_011523992.1:c.1178C>T	XP_011522294.1:p.Ser393Phe
XM_005256767.3:c.1418C>T	XP_005256824.1:p.Ser473Phe
XM_011523992.3:c.1178C>T	XP_011522294.1:p.Ser393Phe
XM_017024957.1:c.1418C>T	XP_016880446.1:p.Ser473Phe
XM_017024958.1:c.1301C>T	XP_016880447.1:p.Ser434Phe
XM_024450887.1:c.1178C>T	XP_024306655.1:p.Ser393Phe
XM_024450888.1:c.1004C>T	XP_024306656.1:p.Ser335Phe
XM_024450889.1:c.887C>T	XP_024306657.1:p.Ser296Phe
XM_024450890.1:c.764C>T	XP_024306658.1:p.Ser255Phe
NM_004169.5:c.1418C>T MANE Select	NP_004160.3:p.Ser473Phe
NM_001281786.2:c.1004C>T	NP_001268715.1:p.Ser335Phe
NM_148918.3:c.1301C>T	NP_683718.1:p.Ser434Phe