Canonical Allele Identifier: CA364421147

Gene: PKHD1

Linked Data

• COSMIC: COSM1080157 ; COSM1596429
• MyVariant Identifiers: chr6:g.51613011C>T (hg19) ; chr6:g.51748213C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748213C>T , CM000668.2:g.51748213C>T	GRCh38
NC_000006.11:g.51613011C>T , CM000668.1:g.51613011C>T	GRCh37
NC_000006.10:g.51720970C>T	NCBI36
NG_008753.1:g.344413G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9403G>A MANE Select	ENSP00000360158.3:p.Glu3135Lys
ENST00000340994.4:c.9403G>A	ENSP00000341097.4:p.Glu3135Lys
ENST00000371117.7:c.9403G>A	ENSP00000360158.3:p.Glu3135Lys
NM_138694.3:c.9403G>A	NP_619639.3:p.Glu3135Lys
NM_170724.2:c.9403G>A	NP_733842.2:p.Glu3135Lys
XM_011514679.1:c.9403G>A	XP_011512981.1:p.Glu3135Lys
XM_011514680.1:c.9403G>A	XP_011512982.1:p.Glu3135Lys
XM_011514681.1:c.9274G>A	XP_011512983.1:p.Glu3092Lys
XM_011514682.1:c.9265G>A	XP_011512984.1:p.Glu3089Lys
XM_011514683.1:c.8761G>A	XP_011512985.1:p.Glu2921Lys
XM_011514684.1:c.8692G>A	XP_011512986.1:p.Glu2898Lys
XM_011514685.1:c.9403G>A	XP_011512987.1:p.Glu3135Lys
XM_011514686.1:c.9403G>A	XP_011512988.1:p.Glu3135Lys
XM_011514687.1:c.9403G>A	XP_011512989.1:p.Glu3135Lys
XM_011514688.1:c.9403G>A	XP_011512990.1:p.Glu3135Lys
XM_011514690.1:c.3478G>A	XP_011512992.1:p.Glu1160Lys
XM_011514691.1:c.3478G>A	XP_011512993.1:p.Glu1160Lys
XM_011514680.3:c.9403G>A	XP_011512982.1:p.Glu3135Lys
XM_011514682.3:c.9265G>A	XP_011512984.1:p.Glu3089Lys
XM_011514683.3:c.8761G>A	XP_011512985.1:p.Glu2921Lys
XM_011514684.3:c.8692G>A	XP_011512986.1:p.Glu2898Lys
XM_011514686.2:c.9403G>A	XP_011512988.1:p.Glu3135Lys
XM_011514688.2:c.9403G>A	XP_011512990.1:p.Glu3135Lys
XM_011514690.3:c.3478G>A	XP_011512992.1:p.Glu1160Lys
XM_011514691.3:c.3478G>A	XP_011512993.1:p.Glu1160Lys
XM_017010944.2:c.9403G>A	XP_016866433.1:p.Glu3135Lys
XM_017010945.2:c.9328G>A	XP_016866434.1:p.Glu3110Lys
XM_017010946.2:c.9208G>A	XP_016866435.1:p.Glu3070Lys
XM_017010947.2:c.9139G>A	XP_016866436.1:p.Glu3047Lys
XM_017010948.2:c.8692G>A	XP_016866437.1:p.Glu2898Lys
XM_017010949.2:c.7543G>A	XP_016866438.1:p.Glu2515Lys
XM_017010950.1:c.9403G>A	XP_016866439.1:p.Glu3135Lys
XR_001743469.1:n.9679G>A
NM_138694.4:c.9403G>A MANE Select	NP_619639.3:p.Glu3135Lys
NM_170724.3:c.9403G>A	NP_733842.2:p.Glu3135Lys