Canonical Allele Identifier: CA398629310

Gene: SHMT1

Linked Data

• dbSNP Id: rs1982836158
• MyVariant Identifiers: chr17:g.18232108T>G (hg19) ; chr17:g.18328794T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18328794T>G , CM000679.2:g.18328794T>G	GRCh38
NC_000017.10:g.18232108T>G , CM000679.1:g.18232108T>G	GRCh37
NC_000017.9:g.18172833T>G	NCBI36
NG_017111.1:g.39749A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583780.2:c.1408A>C	ENSP00000462041.2:p.Ser470Arg
ENST00000316694.8:c.1408A>C MANE Select	ENSP00000318868.3:p.Ser470Arg
ENST00000316694.7:c.1408A>C	ENSP00000318868.3:p.Ser470Arg
ENST00000352886.10:c.994A>C	ENSP00000345881.7:p.Ser332Arg
ENST00000354098.7:c.1291A>C	ENSP00000318805.3:p.Ser431Arg
ENST00000395684.5:n.1731A>C
ENST00000580002.5:c.*905A>C	ENSP00000462043.1:n.*905A>C
NM_001281786.1:c.994A>C	NP_001268715.1:p.Ser332Arg
NM_004169.4:c.1408A>C	NP_004160.3:p.Ser470Arg
NM_148918.2:c.1291A>C	NP_683718.1:p.Ser431Arg
XM_005256767.2:c.1408A>C	XP_005256824.1:p.Ser470Arg
XM_011523992.1:c.1168A>C	XP_011522294.1:p.Ser390Arg
XM_005256767.3:c.1408A>C	XP_005256824.1:p.Ser470Arg
XM_011523992.3:c.1168A>C	XP_011522294.1:p.Ser390Arg
XM_017024957.1:c.1408A>C	XP_016880446.1:p.Ser470Arg
XM_017024958.1:c.1291A>C	XP_016880447.1:p.Ser431Arg
XM_024450887.1:c.1168A>C	XP_024306655.1:p.Ser390Arg
XM_024450888.1:c.994A>C	XP_024306656.1:p.Ser332Arg
XM_024450889.1:c.877A>C	XP_024306657.1:p.Ser293Arg
XM_024450890.1:c.754A>C	XP_024306658.1:p.Ser252Arg
NM_004169.5:c.1408A>C MANE Select	NP_004160.3:p.Ser470Arg
NM_001281786.2:c.994A>C	NP_001268715.1:p.Ser332Arg
NM_148918.3:c.1291A>C	NP_683718.1:p.Ser431Arg