Canonical Allele Identifier: CA389264342

Gene: TGM1

Linked Data

• ClinVar Variation Id: 2428896
• ClinVar RCV Id: RCV003120497
• MyVariant Identifiers: chr14:g.24728352A>G (hg19) ; chr14:g.24259146A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24259146A>G , CM000676.2:g.24259146A>G	GRCh38
NC_000014.8:g.24728352A>G , CM000676.1:g.24728352A>G	GRCh37
NC_000014.7:g.23798192A>G	NCBI36
NG_007150.1:g.9021T>C
NG_007150.2:g.9021T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.1088T>C MANE Select	ENSP00000206765.6:p.Leu363Pro
ENST00000206765.10:c.1088T>C	ENSP00000206765.6:p.Leu363Pro
ENST00000544573.5:c.-28-758T>C	ENSP00000439446.1:n.-28-758T>C
ENST00000559136.1:c.161T>C	ENSP00000453337.1:p.Leu54Pro
NM_000359.2:c.1088T>C	NP_000350.1:p.Leu363Pro
NM_000359.3:c.1088T>C MANE Select	NP_000350.1:p.Leu363Pro