Canonical Allele Identifier: CA498216019
Gene: SHMT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.18232097A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18328783A>T , CM000679.2:g.18328783A>T GRCh38
NC_000017.10:g.18232097A>T , CM000679.1:g.18232097A>T GRCh37
NC_000017.9:g.18172822A>T NCBI36
NG_017111.1:g.39760T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000583780.2:c.1419T>A ENSP00000462041.2:p.Ser473=
ENST00000316694.8:c.1419T>A MANE Select ENSP00000318868.3:p.Ser473=
ENST00000316694.7:c.1419T>A ENSP00000318868.3:p.Ser473=
ENST00000352886.10:c.1005T>A ENSP00000345881.7:p.Ser335=
ENST00000354098.7:c.1302T>A ENSP00000318805.3:p.Ser434=
ENST00000395684.5:n.1742T>A
ENST00000580002.5:c.*916T>A ENSP00000462043.1:n.*916T>A
NM_001281786.1:c.1005T>A NP_001268715.1:p.Ser335=
NM_004169.4:c.1419T>A NP_004160.3:p.Ser473=
NM_148918.2:c.1302T>A NP_683718.1:p.Ser434=
XM_005256767.2:c.1419T>A XP_005256824.1:p.Ser473=
XM_011523992.1:c.1179T>A XP_011522294.1:p.Ser393=
XM_005256767.3:c.1419T>A XP_005256824.1:p.Ser473=
XM_011523992.3:c.1179T>A XP_011522294.1:p.Ser393=
XM_017024957.1:c.1419T>A XP_016880446.1:p.Ser473=
XM_017024958.1:c.1302T>A XP_016880447.1:p.Ser434=
XM_024450887.1:c.1179T>A XP_024306655.1:p.Ser393=
XM_024450888.1:c.1005T>A XP_024306656.1:p.Ser335=
XM_024450889.1:c.888T>A XP_024306657.1:p.Ser296=
XM_024450890.1:c.765T>A XP_024306658.1:p.Ser255=
NM_004169.5:c.1419T>A MANE Select NP_004160.3:p.Ser473=
NM_001281786.2:c.1005T>A NP_001268715.1:p.Ser335=
NM_148918.3:c.1302T>A NP_683718.1:p.Ser434=