Canonical Allele Identifier: CA180312

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 167489
• ClinVar RCV Id: RCV000153718 ; RCV000168029 ; RCV000224414 ; RCV001291851 ; RCV001449932 ; RCV001507102
• dbSNP Id: rs41273726
• ExAC: 6:51893107 T / C
• gnomAD v2: 6-51893107-T-C
• gnomAD v3: 6-52028309-T-C
• gnomAD v4: 6-52028309-T-C
• MyVariant Identifiers: chr6:g.51893107T>C (hg19) ; chr6:g.52028309T>C (hg38)
• PubMed: PMID:15108277 ; PMID:15698423 ; PMID:15805161 ; PMID:16133180 ; PMID:19914852 ; PMID:20413436 ; PMID:21228398 ; PMID:25701400

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52028309T>C , CM000668.2:g.52028309T>C	GRCh38
NC_000006.11:g.51893107T>C , CM000668.1:g.51893107T>C	GRCh37
NC_000006.10:g.52001066T>C	NCBI36
NG_008753.1:g.64317A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.3407A>G MANE Select	ENSP00000360158.3:p.Tyr1136Cys
ENST00000340994.4:c.3407A>G	ENSP00000341097.4:p.Tyr1136Cys
ENST00000371117.7:c.3407A>G	ENSP00000360158.3:p.Tyr1136Cys
NM_138694.3:c.3407A>G	NP_619639.3:p.Tyr1136Cys
NM_170724.2:c.3407A>G	NP_733842.2:p.Tyr1136Cys
XM_011514679.1:c.3407A>G	XP_011512981.1:p.Tyr1136Cys
XM_011514680.1:c.3407A>G	XP_011512982.1:p.Tyr1136Cys
XM_011514681.1:c.3407A>G	XP_011512983.1:p.Tyr1136Cys
XM_011514682.1:c.3407A>G	XP_011512984.1:p.Tyr1136Cys
XM_011514683.1:c.3407A>G	XP_011512985.1:p.Tyr1136Cys
XM_011514684.1:c.2696A>G	XP_011512986.1:p.Tyr899Cys
XM_011514685.1:c.3407A>G	XP_011512987.1:p.Tyr1136Cys
XM_011514686.1:c.3407A>G	XP_011512988.1:p.Tyr1136Cys
XM_011514687.1:c.3407A>G	XP_011512989.1:p.Tyr1136Cys
XM_011514688.1:c.3407A>G	XP_011512990.1:p.Tyr1136Cys
XM_011514689.1:c.3407A>G	XP_011512991.1:p.Tyr1136Cys
XM_011514680.3:c.3407A>G	XP_011512982.1:p.Tyr1136Cys
XM_011514682.3:c.3407A>G	XP_011512984.1:p.Tyr1136Cys
XM_011514683.3:c.3407A>G	XP_011512985.1:p.Tyr1136Cys
XM_011514684.3:c.2696A>G	XP_011512986.1:p.Tyr899Cys
XM_011514686.2:c.3407A>G	XP_011512988.1:p.Tyr1136Cys
XM_011514688.2:c.3407A>G	XP_011512990.1:p.Tyr1136Cys
XM_017010944.2:c.3407A>G	XP_016866433.1:p.Tyr1136Cys
XM_017010945.2:c.3332A>G	XP_016866434.1:p.Tyr1111Cys
XM_017010946.2:c.3407A>G	XP_016866435.1:p.Tyr1136Cys
XM_017010947.2:c.3365-2128A>G	XP_016866436.1:n.3365-2128A>G
XM_017010948.2:c.2696A>G	XP_016866437.1:p.Tyr899Cys
XM_017010949.2:c.1547A>G	XP_016866438.1:p.Tyr516Cys
XM_017010950.1:c.3407A>G	XP_016866439.1:p.Tyr1136Cys
XM_017010951.1:c.3407A>G	XP_016866440.1:p.Tyr1136Cys
XM_017010952.1:c.3407A>G	XP_016866441.1:p.Tyr1136Cys
XR_001743469.1:n.3683A>G
NM_138694.4:c.3407A>G MANE Select	NP_619639.3:p.Tyr1136Cys
NM_170724.3:c.3407A>G	NP_733842.2:p.Tyr1136Cys