Canonical Allele Identifier: CA382628024

Gene: PTS

Linked Data

• MyVariant Identifiers: chr11:g.112104193T>C (hg19) ; chr11:g.112233470T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233470T>C , CM000673.2:g.112233470T>C	GRCh38
NC_000011.9:g.112104193T>C , CM000673.1:g.112104193T>C	GRCh37
NC_000011.8:g.111609403T>C	NCBI36
NG_008743.1:g.12106T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.353T>C MANE Select	ENSP00000280362.3:p.Leu118Pro
ENST00000280362.7:c.353T>C	ENSP00000280362.3:p.Leu118Pro
ENST00000524931.1:c.149T>C	ENSP00000434688.1:p.Leu50Pro
ENST00000525803.1:c.*87T>C	ENSP00000431750.1:n.*87T>C
ENST00000527428.5:n.488+237T>C
ENST00000527635.1:n.394T>C
ENST00000528679.5:c.*162T>C	ENSP00000435895.1:n.*162T>C
ENST00000531673.5:c.*123+237T>C	ENSP00000433469.1:n.*123+237T>C
NM_000317.2:c.353T>C	NP_000308.1:p.Leu118Pro
XM_011542943.1:c.314T>C	XP_011541245.1:p.Leu105Pro
NM_000317.3:c.353T>C MANE Select	NP_000308.1:p.Leu118Pro