Canonical Allele Identifier: CA3851503

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 357423
• ClinVar RCV Id: RCV000390646 ; RCV000521323 ; RCV001292483 ; RCV003409556 ; RCV002502379
• dbSNP Id: rs760222236
• ExAC: 6:51618079 A / G
• gnomAD v2: 6-51618079-A-G
• gnomAD v3: 6-51753281-A-G
• gnomAD v4: 6-51753281-A-G
• MyVariant Identifiers: chr6:g.51618079A>G (hg19) ; chr6:g.51753281A>G (hg38)
• PubMed: PMID:11898128 ; PMID:11919560 ; PMID:12506140 ; PMID:12846734 ; PMID:15805161 ; PMID:19914852 ; PMID:19940839 ; PMID:20413436 ; PMID:23582048 ; PMID:24162162 ; PMID:25701400 ; PMID:26385851 ; PMID:27225849

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51753281A>G , CM000668.2:g.51753281A>G	GRCh38
NC_000006.11:g.51618079A>G , CM000668.1:g.51618079A>G	GRCh37
NC_000006.10:g.51726038A>G	NCBI36
NG_008753.1:g.339345T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.8870T>C MANE Select	ENSP00000360158.3:p.Ile2957Thr
ENST00000340994.4:c.8870T>C	ENSP00000341097.4:p.Ile2957Thr
ENST00000371117.7:c.8870T>C	ENSP00000360158.3:p.Ile2957Thr
NM_138694.3:c.8870T>C	NP_619639.3:p.Ile2957Thr
NM_170724.2:c.8870T>C	NP_733842.2:p.Ile2957Thr
XM_011514679.1:c.8870T>C	XP_011512981.1:p.Ile2957Thr
XM_011514680.1:c.8870T>C	XP_011512982.1:p.Ile2957Thr
XM_011514681.1:c.8741T>C	XP_011512983.1:p.Ile2914Thr
XM_011514682.1:c.8732T>C	XP_011512984.1:p.Ile2911Thr
XM_011514683.1:c.8228T>C	XP_011512985.1:p.Ile2743Thr
XM_011514684.1:c.8159T>C	XP_011512986.1:p.Ile2720Thr
XM_011514685.1:c.8870T>C	XP_011512987.1:p.Ile2957Thr
XM_011514686.1:c.8870T>C	XP_011512988.1:p.Ile2957Thr
XM_011514687.1:c.8870T>C	XP_011512989.1:p.Ile2957Thr
XM_011514688.1:c.8870T>C	XP_011512990.1:p.Ile2957Thr
XM_011514690.1:c.2945T>C	XP_011512992.1:p.Ile982Thr
XM_011514691.1:c.2945T>C	XP_011512993.1:p.Ile982Thr
XM_011514680.3:c.8870T>C	XP_011512982.1:p.Ile2957Thr
XM_011514682.3:c.8732T>C	XP_011512984.1:p.Ile2911Thr
XM_011514683.3:c.8228T>C	XP_011512985.1:p.Ile2743Thr
XM_011514684.3:c.8159T>C	XP_011512986.1:p.Ile2720Thr
XM_011514686.2:c.8870T>C	XP_011512988.1:p.Ile2957Thr
XM_011514688.2:c.8870T>C	XP_011512990.1:p.Ile2957Thr
XM_011514690.3:c.2945T>C	XP_011512992.1:p.Ile982Thr
XM_011514691.3:c.2945T>C	XP_011512993.1:p.Ile982Thr
XM_017010944.2:c.8870T>C	XP_016866433.1:p.Ile2957Thr
XM_017010945.2:c.8795T>C	XP_016866434.1:p.Ile2932Thr
XM_017010946.2:c.8675T>C	XP_016866435.1:p.Ile2892Thr
XM_017010947.2:c.8606T>C	XP_016866436.1:p.Ile2869Thr
XM_017010948.2:c.8159T>C	XP_016866437.1:p.Ile2720Thr
XM_017010949.2:c.7010T>C	XP_016866438.1:p.Ile2337Thr
XM_017010950.1:c.8870T>C	XP_016866439.1:p.Ile2957Thr
XM_017010951.1:c.*1474T>C	XP_016866440.1:n.*1474T>C
XR_001743469.1:n.9146T>C
NM_138694.4:c.8870T>C MANE Select	NP_619639.3:p.Ile2957Thr
NM_170724.3:c.8870T>C	NP_733842.2:p.Ile2957Thr