Canonical Allele Identifier: CA396883913

Gene: PKD1L2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_001076780.1:c.754C>G	NP_001070248.1:p.Arg252Gly
NM_001076780.2:c.754C>G	NP_001070248.1:p.Arg252Gly
NM_052892.3:c.754C>G	NP_443124.3:p.Arg252Gly
NM_052892.4:c.754C>G	NP_443124.3:p.Arg252Gly
NR_126532.1:n.754C>G
NR_126532.2:n.778C>G
ENST00000337114.8:c.754C>G	ENSP00000337397.4:p.Arg252Gly
ENST00000525539.5:c.754C>G	ENSP00000434417.1:p.Arg252Gly
ENST00000614230.4:c.754C>G	ENSP00000483832.1:p.Arg252Gly