Canonical Allele Identifier: CA964890

Gene: PLPPR4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99306619T>C , CM000663.2:g.99306619T>C	GRCh38
NC_000001.10:g.99772175T>C , CM000663.1:g.99772175T>C	GRCh37
NC_000001.9:g.99544763T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_014839.5:c.1757T>C MANE Select	NP_055654.3:p.Ile586Thr
ENST00000370185.9:c.1757T>C MANE Select	ENSP00000359204.4:p.Ile586Thr
NM_001166252.1:c.1727T>C	NP_001159724.1:p.Ile576Thr
NM_001166252.2:c.1583T>C	NP_001159724.2:p.Ile528Thr
NM_014839.4:c.1901T>C	NP_055654.2:p.Ile634Thr
ENST00000370184.1:c.1427T>C	ENSP00000359203.1:p.Ile476Thr
ENST00000370185.7:c.1901T>C	ENSP00000359204.3:p.Ile634Thr
ENST00000370185.8:c.1757T>C	ENSP00000359204.4:p.Ile586Thr
ENST00000457765.5:c.1727T>C	ENSP00000394913.1:p.Ile576Thr
ENST00000457765.6:c.1583T>C	ENSP00000394913.2:p.Ile528Thr
XM_011542498.1:c.1574T>C	XP_011540800.1:p.Ile525Thr
XM_011542498.2:c.1574T>C	XP_011540800.1:p.Ile525Thr