Canonical Allele Identifier: CA364431885
Community Standard Title: NM_138694.4(PKHD1):c.4682G>A (p.Cys1561Tyr)
Gene: PKHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52025128C>T , CM000668.2:g.52025128C>T GRCh38
NC_000006.11:g.51889926C>T , CM000668.1:g.51889926C>T GRCh37
NC_000006.10:g.51997885C>T NCBI36
NG_008753.1:g.67498G>A

Transcript Alleles

HGVS Amino-acid Change
NM_138694.4:c.4682G>A MANE Select NP_619639.3:p.Cys1561Tyr
ENST00000371117.8:c.4682G>A MANE Select ENSP00000360158.3:p.Cys1561Tyr
NM_138694.3:c.4682G>A NP_619639.3:p.Cys1561Tyr
NM_170724.2:c.4682G>A NP_733842.2:p.Cys1561Tyr
NM_170724.3:c.4682G>A NP_733842.2:p.Cys1561Tyr
ENST00000340994.4:c.4682G>A ENSP00000341097.4:p.Cys1561Tyr
ENST00000371117.7:c.4682G>A ENSP00000360158.3:p.Cys1561Tyr
XM_011514679.1:c.4682G>A XP_011512981.1:p.Cys1561Tyr
XM_011514680.1:c.4682G>A XP_011512982.1:p.Cys1561Tyr
XM_011514680.3:c.4682G>A XP_011512982.1:p.Cys1561Tyr
XM_011514681.1:c.4682G>A XP_011512983.1:p.Cys1561Tyr
XM_011514682.1:c.4682G>A XP_011512984.1:p.Cys1561Tyr
XM_011514682.3:c.4682G>A XP_011512984.1:p.Cys1561Tyr
XM_011514683.1:c.4102-62G>A XP_011512985.1:n.4102-62G>A
XM_011514683.3:c.4102-62G>A XP_011512985.1:n.4102-62G>A
XM_011514684.1:c.3971G>A XP_011512986.1:p.Cys1324Tyr
XM_011514684.3:c.3971G>A XP_011512986.1:p.Cys1324Tyr
XM_011514685.1:c.4682G>A XP_011512987.1:p.Cys1561Tyr
XM_011514686.1:c.4682G>A XP_011512988.1:p.Cys1561Tyr
XM_011514686.2:c.4682G>A XP_011512988.1:p.Cys1561Tyr
XM_011514687.1:c.4682G>A XP_011512989.1:p.Cys1561Tyr
XM_011514688.1:c.4682G>A XP_011512990.1:p.Cys1561Tyr
XM_011514688.2:c.4682G>A XP_011512990.1:p.Cys1561Tyr
XM_011514689.1:c.4682G>A XP_011512991.1:p.Cys1561Tyr
XM_017010944.2:c.4682G>A XP_016866433.1:p.Cys1561Tyr
XM_017010945.2:c.4607G>A XP_016866434.1:p.Cys1536Tyr
XM_017010946.2:c.4682G>A XP_016866435.1:p.Cys1561Tyr
XM_017010947.2:c.4418G>A XP_016866436.1:p.Cys1473Tyr
XM_017010948.2:c.3971G>A XP_016866437.1:p.Cys1324Tyr
XM_017010949.2:c.2822G>A XP_016866438.1:p.Cys941Tyr
XM_017010950.1:c.4682G>A XP_016866439.1:p.Cys1561Tyr
XM_017010951.1:c.4682G>A XP_016866440.1:p.Cys1561Tyr
XM_017010952.1:c.4682G>A XP_016866441.1:p.Cys1561Tyr
XR_001743469.1:n.4958G>A