Canonical Allele Identifier: CA4251828
Community Standard Title: NM_138295.5(PKD1L1):c.8059C>T (p.Pro2687Ser)
Gene: PKD1L1 HGNC NCBI
HUS1 HGNC NCBI
PKD1L1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.47800783G>A , CM000669.2:g.47800783G>A GRCh38
NC_000007.13:g.47840381G>A , CM000669.1:g.47840381G>A GRCh37
NC_000007.12:g.47806906G>A NCBI36
NG_052801.1:g.162840C>T

Transcript Alleles

HGVS Amino-acid Change
NM_138295.5:c.8059C>T (PKD1L1) MANE Select NP_612152.1:p.Pro2687Ser
ENST00000289672.7:c.8059C>T (PKD1L1) MANE Select ENSP00000289672.2:p.Pro2687Ser
NM_001302627.1:c.-94+5340G>A (PKD1L1-AS1) NP_001289556.1:n.-94+5340G>A
NM_025031.2:c.108+5340G>A (PKD1L1-AS1) NP_079307.2:n.108+5340G>A
NM_138295.3:c.8059C>T (PKD1L1) NP_612152.1:p.Pro2687Ser
NM_138295.4:c.8059C>T (PKD1L1) NP_612152.1:p.Pro2687Ser
NR_161268.1:n.153+5340G>A (PKD1L1-AS1)
NR_161269.1:n.153+5340G>A (PKD1L1-AS1)
ENST00000289672.6:c.8059C>T (PKD1L1) ENSP00000289672.2:p.Pro2687Ser
ENST00000433506.2:c.736C>T (PKD1L1) ENSP00000393466.2:p.Pro246Ser
ENST00000436444.5:c.*1171-105008C>T (HUS1) ENSP00000403844.1:n.*1171-105008C>T
ENST00000648482.1:c.692C>T (PKD1L1)
ENST00000685709.1:c.7891C>T (PKD1L1) ENSP00000509540.1:p.Pro2631Ser
ENST00000686775.1:c.1700C>T (PKD1L1)
ENST00000690269.1:c.8059C>T (PKD1L1) ENSP00000510743.1:p.Pro2687Ser
XM_017011798.2:c.8236C>T (PKD1L1) XP_016867287.1:p.Pro2746Ser