Canonical Allele Identifier: CA501106

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 283652
• ClinVar RCV Id: RCV000365257 ; RCV000725304
• dbSNP Id: rs886042677
• MyVariant Identifiers: chr6:g.51887607G>A (hg19) ; chr6:g.52022809G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52022809G>A , CM000668.2:g.52022809G>A	GRCh38
NC_000006.11:g.51887607G>A , CM000668.1:g.51887607G>A	GRCh37
NC_000006.10:g.51995566G>A	NCBI36
NG_008753.1:g.69817C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.5372C>T MANE Select	ENSP00000360158.3:p.Pro1791Leu
ENST00000340994.4:c.5372C>T	ENSP00000341097.4:p.Pro1791Leu
ENST00000371117.7:c.5372C>T	ENSP00000360158.3:p.Pro1791Leu
NM_138694.3:c.5372C>T	NP_619639.3:p.Pro1791Leu
NM_170724.2:c.5372C>T	NP_733842.2:p.Pro1791Leu
XM_011514679.1:c.5372C>T	XP_011512981.1:p.Pro1791Leu
XM_011514680.1:c.5372C>T	XP_011512982.1:p.Pro1791Leu
XM_011514681.1:c.5372C>T	XP_011512983.1:p.Pro1791Leu
XM_011514682.1:c.5372C>T	XP_011512984.1:p.Pro1791Leu
XM_011514683.1:c.4730C>T	XP_011512985.1:p.Pro1577Leu
XM_011514684.1:c.4661C>T	XP_011512986.1:p.Pro1554Leu
XM_011514685.1:c.5372C>T	XP_011512987.1:p.Pro1791Leu
XM_011514686.1:c.5372C>T	XP_011512988.1:p.Pro1791Leu
XM_011514687.1:c.5372C>T	XP_011512989.1:p.Pro1791Leu
XM_011514688.1:c.5372C>T	XP_011512990.1:p.Pro1791Leu
XM_011514689.1:c.5372C>T	XP_011512991.1:p.Pro1791Leu
XM_011514680.3:c.5372C>T	XP_011512982.1:p.Pro1791Leu
XM_011514682.3:c.5372C>T	XP_011512984.1:p.Pro1791Leu
XM_011514683.3:c.4730C>T	XP_011512985.1:p.Pro1577Leu
XM_011514684.3:c.4661C>T	XP_011512986.1:p.Pro1554Leu
XM_011514686.2:c.5372C>T	XP_011512988.1:p.Pro1791Leu
XM_011514688.2:c.5372C>T	XP_011512990.1:p.Pro1791Leu
XM_017010944.2:c.5372C>T	XP_016866433.1:p.Pro1791Leu
XM_017010945.2:c.5297C>T	XP_016866434.1:p.Pro1766Leu
XM_017010946.2:c.5372C>T	XP_016866435.1:p.Pro1791Leu
XM_017010947.2:c.5108C>T	XP_016866436.1:p.Pro1703Leu
XM_017010948.2:c.4661C>T	XP_016866437.1:p.Pro1554Leu
XM_017010949.2:c.3512C>T	XP_016866438.1:p.Pro1171Leu
XM_017010950.1:c.5372C>T	XP_016866439.1:p.Pro1791Leu
XM_017010951.1:c.5372C>T	XP_016866440.1:p.Pro1791Leu
XM_017010952.1:c.5372C>T	XP_016866441.1:p.Pro1791Leu
XR_001743469.1:n.5648C>T
NM_138694.4:c.5372C>T MANE Select	NP_619639.3:p.Pro1791Leu
NM_170724.3:c.5372C>T	NP_733842.2:p.Pro1791Leu