Canonical Allele Identifier: CA382627766

Gene: PTS

Linked Data

• MyVariant Identifiers: chr11:g.112103892A>C (hg19) ; chr11:g.112233169A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233169A>C , CM000673.2:g.112233169A>C	GRCh38
NC_000011.9:g.112103892A>C , CM000673.1:g.112103892A>C	GRCh37
NC_000011.8:g.111609102A>C	NCBI36
NG_008743.1:g.11805A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.250A>C MANE Select	ENSP00000280362.3:p.Ile84Leu
ENST00000280362.7:c.250A>C	ENSP00000280362.3:p.Ile84Leu
ENST00000524931.1:c.46A>C	ENSP00000434688.1:p.Ile16Leu
ENST00000525803.1:c.170A>C	ENSP00000431750.1:p.Asp57Ala
ENST00000527428.5:n.424A>C
ENST00000527635.1:n.291A>C
ENST00000528679.5:c.*59A>C	ENSP00000435895.1:n.*59A>C
ENST00000531175.1:n.201A>C
ENST00000531673.5:c.*59A>C	ENSP00000433469.1:n.*59A>C
NM_000317.2:c.250A>C	NP_000308.1:p.Ile84Leu
XM_011542943.1:c.211A>C	XP_011541245.1:p.Ile71Leu
NM_000317.3:c.250A>C MANE Select	NP_000308.1:p.Ile84Leu