Canonical Allele Identifier: CA498216049

Gene: SHMT1

Linked Data

• MyVariant Identifiers: chr17:g.18232100G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18328786G>T , CM000679.2:g.18328786G>T	GRCh38
NC_000017.10:g.18232100G>T , CM000679.1:g.18232100G>T	GRCh37
NC_000017.9:g.18172825G>T	NCBI36
NG_017111.1:g.39757C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000583780.2:c.1416C>A	ENSP00000462041.2:p.Ala472=
ENST00000316694.8:c.1416C>A MANE Select	ENSP00000318868.3:p.Ala472=
ENST00000316694.7:c.1416C>A	ENSP00000318868.3:p.Ala472=
ENST00000352886.10:c.1002C>A	ENSP00000345881.7:p.Ala334=
ENST00000354098.7:c.1299C>A	ENSP00000318805.3:p.Ala433=
ENST00000395684.5:n.1739C>A
ENST00000580002.5:c.*913C>A	ENSP00000462043.1:n.*913C>A
NM_001281786.1:c.1002C>A	NP_001268715.1:p.Ala334=
NM_004169.4:c.1416C>A	NP_004160.3:p.Ala472=
NM_148918.2:c.1299C>A	NP_683718.1:p.Ala433=
XM_005256767.2:c.1416C>A	XP_005256824.1:p.Ala472=
XM_011523992.1:c.1176C>A	XP_011522294.1:p.Ala392=
XM_005256767.3:c.1416C>A	XP_005256824.1:p.Ala472=
XM_011523992.3:c.1176C>A	XP_011522294.1:p.Ala392=
XM_017024957.1:c.1416C>A	XP_016880446.1:p.Ala472=
XM_017024958.1:c.1299C>A	XP_016880447.1:p.Ala433=
XM_024450887.1:c.1176C>A	XP_024306655.1:p.Ala392=
XM_024450888.1:c.1002C>A	XP_024306656.1:p.Ala334=
XM_024450889.1:c.885C>A	XP_024306657.1:p.Ala295=
XM_024450890.1:c.762C>A	XP_024306658.1:p.Ala254=
NM_004169.5:c.1416C>A MANE Select	NP_004160.3:p.Ala472=
NM_001281786.2:c.1002C>A	NP_001268715.1:p.Ala334=
NM_148918.3:c.1299C>A	NP_683718.1:p.Ala433=