Canonical Allele Identifier: CA398629264

Gene: SHMT1

Linked Data

• dbSNP Id: rs779538552
• MyVariant Identifiers: chr17:g.18232102C>A (hg19) ; chr17:g.18328788C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18328788C>A , CM000679.2:g.18328788C>A	GRCh38
NC_000017.10:g.18232102C>A , CM000679.1:g.18232102C>A	GRCh37
NC_000017.9:g.18172827C>A	NCBI36
NG_017111.1:g.39755G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000583780.2:c.1414G>T	ENSP00000462041.2:p.Ala472Ser
ENST00000316694.8:c.1414G>T MANE Select	ENSP00000318868.3:p.Ala472Ser
ENST00000316694.7:c.1414G>T	ENSP00000318868.3:p.Ala472Ser
ENST00000352886.10:c.1000G>T	ENSP00000345881.7:p.Ala334Ser
ENST00000354098.7:c.1297G>T	ENSP00000318805.3:p.Ala433Ser
ENST00000395684.5:n.1737G>T
ENST00000580002.5:c.*911G>T	ENSP00000462043.1:n.*911G>T
NM_001281786.1:c.1000G>T	NP_001268715.1:p.Ala334Ser
NM_004169.4:c.1414G>T	NP_004160.3:p.Ala472Ser
NM_148918.2:c.1297G>T	NP_683718.1:p.Ala433Ser
XM_005256767.2:c.1414G>T	XP_005256824.1:p.Ala472Ser
XM_011523992.1:c.1174G>T	XP_011522294.1:p.Ala392Ser
XM_005256767.3:c.1414G>T	XP_005256824.1:p.Ala472Ser
XM_011523992.3:c.1174G>T	XP_011522294.1:p.Ala392Ser
XM_017024957.1:c.1414G>T	XP_016880446.1:p.Ala472Ser
XM_017024958.1:c.1297G>T	XP_016880447.1:p.Ala433Ser
XM_024450887.1:c.1174G>T	XP_024306655.1:p.Ala392Ser
XM_024450888.1:c.1000G>T	XP_024306656.1:p.Ala334Ser
XM_024450889.1:c.883G>T	XP_024306657.1:p.Ala295Ser
XM_024450890.1:c.760G>T	XP_024306658.1:p.Ala254Ser
NM_004169.5:c.1414G>T MANE Select	NP_004160.3:p.Ala472Ser
NM_001281786.2:c.1000G>T	NP_001268715.1:p.Ala334Ser
NM_148918.3:c.1297G>T	NP_683718.1:p.Ala433Ser