Canonical Allele Identifier: CA382628043

Gene: PTS

Linked Data

• MyVariant Identifiers: chr11:g.112104201G>C (hg19) ; chr11:g.112233478G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233478G>C , CM000673.2:g.112233478G>C	GRCh38
NC_000011.9:g.112104201G>C , CM000673.1:g.112104201G>C	GRCh37
NC_000011.8:g.111609411G>C	NCBI36
NG_008743.1:g.12114G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.361G>C MANE Select	ENSP00000280362.3:p.Val121Leu
ENST00000280362.7:c.361G>C	ENSP00000280362.3:p.Val121Leu
ENST00000524931.1:c.157G>C	ENSP00000434688.1:p.Val53Leu
ENST00000525803.1:c.*95G>C	ENSP00000431750.1:n.*95G>C
ENST00000527428.5:n.488+245G>C
ENST00000527635.1:n.402G>C
ENST00000528679.5:c.*170G>C	ENSP00000435895.1:n.*170G>C
ENST00000531673.5:c.*123+245G>C	ENSP00000433469.1:n.*123+245G>C
NM_000317.2:c.361G>C	NP_000308.1:p.Val121Leu
XM_011542943.1:c.322G>C	XP_011541245.1:p.Val108Leu
NM_000317.3:c.361G>C MANE Select	NP_000308.1:p.Val121Leu