Canonical Allele Identifier: CA364430238

Gene: PKHD1

Linked Data

• COSMIC: COSM1568328
• MyVariant Identifiers: chr6:g.51523858A>T (hg19) ; chr6:g.51659060A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659060A>T , CM000668.2:g.51659060A>T	GRCh38
NC_000006.11:g.51523858A>T , CM000668.1:g.51523858A>T	GRCh37
NC_000006.10:g.51631817A>T	NCBI36
NG_008753.1:g.433566T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11066T>A MANE Select	ENSP00000360158.3:p.Leu3689Ter
ENST00000371117.7:c.11066T>A	ENSP00000360158.3:p.Leu3689Ter
NM_138694.3:c.11066T>A	NP_619639.3:p.Leu3689Ter
XM_011514679.1:c.11066T>A	XP_011512981.1:p.Leu3689Ter
XM_011514680.1:c.11066T>A	XP_011512982.1:p.Leu3689Ter
XM_011514681.1:c.10937T>A	XP_011512983.1:p.Leu3646Ter
XM_011514682.1:c.10928T>A	XP_011512984.1:p.Leu3643Ter
XM_011514683.1:c.10424T>A	XP_011512985.1:p.Leu3475Ter
XM_011514684.1:c.10355T>A	XP_011512986.1:p.Leu3452Ter
XM_011514687.1:c.10157-9840T>A	XP_011512989.1:n.10157-9840T>A
XM_011514690.1:c.5141T>A	XP_011512992.1:p.Leu1714Ter
XM_011514691.1:c.5141T>A	XP_011512993.1:p.Leu1714Ter
XR_926870.1:n.535+6687A>T
XR_926871.1:n.403+6687A>T
XR_926872.1:n.535+6687A>T
XM_011514680.3:c.11066T>A	XP_011512982.1:p.Leu3689Ter
XM_011514682.3:c.10928T>A	XP_011512984.1:p.Leu3643Ter
XM_011514683.3:c.10424T>A	XP_011512985.1:p.Leu3475Ter
XM_011514684.3:c.10355T>A	XP_011512986.1:p.Leu3452Ter
XM_011514690.3:c.5141T>A	XP_011512992.1:p.Leu1714Ter
XM_011514691.3:c.5141T>A	XP_011512993.1:p.Leu1714Ter
XM_017010944.2:c.11066T>A	XP_016866433.1:p.Leu3689Ter
XM_017010945.2:c.10991T>A	XP_016866434.1:p.Leu3664Ter
XM_017010946.2:c.10871T>A	XP_016866435.1:p.Leu3624Ter
XM_017010947.2:c.10802T>A	XP_016866436.1:p.Leu3601Ter
XM_017010948.2:c.10355T>A	XP_016866437.1:p.Leu3452Ter
XM_017010949.2:c.9206T>A	XP_016866438.1:p.Leu3069Ter
XR_001743469.1:n.11342T>A
XR_001744157.1:n.3145+6687A>T
XR_926870.2:n.3145+6687A>T
XR_926871.2:n.3013+6687A>T
XR_926872.2:n.3145+6687A>T
NM_138694.4:c.11066T>A MANE Select	NP_619639.3:p.Leu3689Ter