Canonical Allele Identifier: CA382627772

Gene: PTS

Linked Data

• MyVariant Identifiers: chr11:g.112103894T>G (hg19) ; chr11:g.112233171T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233171T>G , CM000673.2:g.112233171T>G	GRCh38
NC_000011.9:g.112103894T>G , CM000673.1:g.112103894T>G	GRCh37
NC_000011.8:g.111609104T>G	NCBI36
NG_008743.1:g.11807T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.252T>G MANE Select	ENSP00000280362.3:p.Ile84Met
ENST00000280362.7:c.252T>G	ENSP00000280362.3:p.Ile84Met
ENST00000524931.1:c.48T>G	ENSP00000434688.1:p.Ile16Met
ENST00000525803.1:c.172T>G	ENSP00000431750.1:p.Tyr58Asp
ENST00000527428.5:n.426T>G
ENST00000527635.1:n.293T>G
ENST00000528679.5:c.*61T>G	ENSP00000435895.1:n.*61T>G
ENST00000531175.1:n.203T>G
ENST00000531673.5:c.*61T>G	ENSP00000433469.1:n.*61T>G
NM_000317.2:c.252T>G	NP_000308.1:p.Ile84Met
XM_011542943.1:c.213T>G	XP_011541245.1:p.Ile71Met
NM_000317.3:c.252T>G MANE Select	NP_000308.1:p.Ile84Met