Canonical Allele Identifier: CA389263289

Gene: TGM1

Linked Data

• MyVariant Identifiers: chr14:g.24728281C>G (hg19) ; chr14:g.24259075C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24259075C>G , CM000676.2:g.24259075C>G	GRCh38
NC_000014.8:g.24728281C>G , CM000676.1:g.24728281C>G	GRCh37
NC_000014.7:g.23798121C>G	NCBI36
NG_007150.1:g.9092G>C
NG_007150.2:g.9092G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.1159G>C MANE Select	ENSP00000206765.6:p.Val387Leu
ENST00000206765.10:c.1159G>C	ENSP00000206765.6:p.Val387Leu
ENST00000544573.5:c.-28-687G>C	ENSP00000439446.1:n.-28-687G>C
ENST00000559136.1:c.232G>C	ENSP00000453337.1:p.Val78Leu
NM_000359.2:c.1159G>C	NP_000350.1:p.Val387Leu
NM_000359.3:c.1159G>C MANE Select	NP_000350.1:p.Val387Leu