Canonical Allele Identifier: CA422716528
Gene: PKP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.201286867G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201317739G>T , CM000663.2:g.201317739G>T GRCh38
NC_000001.10:g.201286867G>T , CM000663.1:g.201286867G>T GRCh37
NC_000001.9:g.199553490G>T NCBI36
NG_023337.1:g.39288G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367324.8:c.1014G>T MANE Select ENSP00000356293.4:p.Leu338=
ENST00000263946.7:c.1014G>T ENSP00000263946.3:p.Leu338=
ENST00000352845.3:c.1014G>T ENSP00000295597.3:p.Leu338=
ENST00000367324.7:c.1014G>T ENSP00000356293.3:p.Leu338=
ENST00000475988.1:n.356G>T
ENST00000622031.4:c.1011G>T ENSP00000482213.1:p.Leu337=
NM_000299.3:c.1014G>T NP_000290.2:p.Leu338=
NM_001005337.2:c.1014G>T NP_001005337.1:p.Leu338=
NM_001005337.3:c.1014G>T MANE Select NP_001005337.1:p.Leu338=
NM_000299.4:c.1014G>T NP_000290.2:p.Leu338=