Canonical Allele Identifier: CA501157
Community Standard Title: NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)
Gene: PKHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659052G>A , CM000668.2:g.51659052G>A GRCh38
NC_000006.11:g.51523850G>A , CM000668.1:g.51523850G>A GRCh37
NC_000006.10:g.51631809G>A NCBI36
NG_008753.1:g.433574C>T

Transcript Alleles

HGVS Amino-acid Change
NM_138694.4:c.11074C>T MANE Select NP_619639.3:p.Arg3692Ter
ENST00000371117.8:c.11074C>T MANE Select ENSP00000360158.3:p.Arg3692Ter
NM_138694.3:c.11074C>T NP_619639.3:p.Arg3692Ter
ENST00000371117.7:c.11074C>T ENSP00000360158.3:p.Arg3692Ter
XM_011514679.1:c.11074C>T XP_011512981.1:p.Arg3692Ter
XM_011514680.1:c.11074C>T XP_011512982.1:p.Arg3692Ter
XM_011514680.3:c.11074C>T XP_011512982.1:p.Arg3692Ter
XM_011514681.1:c.10945C>T XP_011512983.1:p.Arg3649Ter
XM_011514682.1:c.10936C>T XP_011512984.1:p.Arg3646Ter
XM_011514682.3:c.10936C>T XP_011512984.1:p.Arg3646Ter
XM_011514683.1:c.10432C>T XP_011512985.1:p.Arg3478Ter
XM_011514683.3:c.10432C>T XP_011512985.1:p.Arg3478Ter
XM_011514684.1:c.10363C>T XP_011512986.1:p.Arg3455Ter
XM_011514684.3:c.10363C>T XP_011512986.1:p.Arg3455Ter
XM_011514687.1:c.10157-9832C>T XP_011512989.1:n.10157-9832C>T
XM_011514690.1:c.5149C>T XP_011512992.1:p.Arg1717Ter
XM_011514690.3:c.5149C>T XP_011512992.1:p.Arg1717Ter
XM_011514691.1:c.5149C>T XP_011512993.1:p.Arg1717Ter
XM_011514691.3:c.5149C>T XP_011512993.1:p.Arg1717Ter
XM_017010944.2:c.11074C>T XP_016866433.1:p.Arg3692Ter
XM_017010945.2:c.10999C>T XP_016866434.1:p.Arg3667Ter
XM_017010946.2:c.10879C>T XP_016866435.1:p.Arg3627Ter
XM_017010947.2:c.10810C>T XP_016866436.1:p.Arg3604Ter
XM_017010948.2:c.10363C>T XP_016866437.1:p.Arg3455Ter
XM_017010949.2:c.9214C>T XP_016866438.1:p.Arg3072Ter
XR_001743469.1:n.11350C>T
XR_001744157.1:n.3145+6679G>A
XR_926870.1:n.535+6679G>A
XR_926870.2:n.3145+6679G>A
XR_926871.1:n.403+6679G>A
XR_926871.2:n.3013+6679G>A
XR_926872.1:n.535+6679G>A
XR_926872.2:n.3145+6679G>A