Canonical Allele Identifier: CA8190154

Gene: PKD1L2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81208497G>A , CM000678.2:g.81208497G>A	GRCh38
NC_000016.9:g.81242102G>A , CM000678.1:g.81242102G>A	GRCh37
NC_000016.8:g.79799603G>A	NCBI36
NG_033236.1:g.16874C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001076780.1:c.754C>T	NP_001070248.1:p.Arg252Trp
NM_001076780.2:c.754C>T	NP_001070248.1:p.Arg252Trp
NM_052892.3:c.754C>T	NP_443124.3:p.Arg252Trp
NM_052892.4:c.754C>T	NP_443124.3:p.Arg252Trp
NR_126532.1:n.754C>T
NR_126532.2:n.778C>T
ENST00000337114.8:c.754C>T	ENSP00000337397.4:p.Arg252Trp
ENST00000525539.5:c.754C>T	ENSP00000434417.1:p.Arg252Trp
ENST00000614230.4:c.754C>T	ENSP00000483832.1:p.Arg252Trp