Canonical Allele Identifier: CA398629289

Gene: SHMT1

Linked Data

• MyVariant Identifiers: chr17:g.18232105A>G (hg19) ; chr17:g.18328791A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18328791A>G , CM000679.2:g.18328791A>G	GRCh38
NC_000017.10:g.18232105A>G , CM000679.1:g.18232105A>G	GRCh37
NC_000017.9:g.18172830A>G	NCBI36
NG_017111.1:g.39752T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000583780.2:c.1411T>C	ENSP00000462041.2:p.Phe471Leu
ENST00000316694.8:c.1411T>C MANE Select	ENSP00000318868.3:p.Phe471Leu
ENST00000316694.7:c.1411T>C	ENSP00000318868.3:p.Phe471Leu
ENST00000352886.10:c.997T>C	ENSP00000345881.7:p.Phe333Leu
ENST00000354098.7:c.1294T>C	ENSP00000318805.3:p.Phe432Leu
ENST00000395684.5:n.1734T>C
ENST00000580002.5:c.*908T>C	ENSP00000462043.1:n.*908T>C
NM_001281786.1:c.997T>C	NP_001268715.1:p.Phe333Leu
NM_004169.4:c.1411T>C	NP_004160.3:p.Phe471Leu
NM_148918.2:c.1294T>C	NP_683718.1:p.Phe432Leu
XM_005256767.2:c.1411T>C	XP_005256824.1:p.Phe471Leu
XM_011523992.1:c.1171T>C	XP_011522294.1:p.Phe391Leu
XM_005256767.3:c.1411T>C	XP_005256824.1:p.Phe471Leu
XM_011523992.3:c.1171T>C	XP_011522294.1:p.Phe391Leu
XM_017024957.1:c.1411T>C	XP_016880446.1:p.Phe471Leu
XM_017024958.1:c.1294T>C	XP_016880447.1:p.Phe432Leu
XM_024450887.1:c.1171T>C	XP_024306655.1:p.Phe391Leu
XM_024450888.1:c.997T>C	XP_024306656.1:p.Phe333Leu
XM_024450889.1:c.880T>C	XP_024306657.1:p.Phe294Leu
XM_024450890.1:c.757T>C	XP_024306658.1:p.Phe253Leu
NM_004169.5:c.1411T>C MANE Select	NP_004160.3:p.Phe471Leu
NM_001281786.2:c.997T>C	NP_001268715.1:p.Phe333Leu
NM_148918.3:c.1294T>C	NP_683718.1:p.Phe432Leu