Canonical Allele Identifier: CA364420772

Gene: PKHD1

Linked Data

• COSMIC: COSM4441822 ; COSM4441823
• MyVariant Identifiers: chr6:g.51612839G>T (hg19) ; chr6:g.51748041G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748041G>T , CM000668.2:g.51748041G>T	GRCh38
NC_000006.11:g.51612839G>T , CM000668.1:g.51612839G>T	GRCh37
NC_000006.10:g.51720798G>T	NCBI36
NG_008753.1:g.344585C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9575C>A MANE Select	ENSP00000360158.3:p.Ser3192Tyr
ENST00000340994.4:c.9575C>A	ENSP00000341097.4:p.Ser3192Tyr
ENST00000371117.7:c.9575C>A	ENSP00000360158.3:p.Ser3192Tyr
NM_138694.3:c.9575C>A	NP_619639.3:p.Ser3192Tyr
NM_170724.2:c.9575C>A	NP_733842.2:p.Ser3192Tyr
XM_011514679.1:c.9575C>A	XP_011512981.1:p.Ser3192Tyr
XM_011514680.1:c.9575C>A	XP_011512982.1:p.Ser3192Tyr
XM_011514681.1:c.9446C>A	XP_011512983.1:p.Ser3149Tyr
XM_011514682.1:c.9437C>A	XP_011512984.1:p.Ser3146Tyr
XM_011514683.1:c.8933C>A	XP_011512985.1:p.Ser2978Tyr
XM_011514684.1:c.8864C>A	XP_011512986.1:p.Ser2955Tyr
XM_011514685.1:c.9575C>A	XP_011512987.1:p.Ser3192Tyr
XM_011514686.1:c.9575C>A	XP_011512988.1:p.Ser3192Tyr
XM_011514687.1:c.9575C>A	XP_011512989.1:p.Ser3192Tyr
XM_011514688.1:c.9575C>A	XP_011512990.1:p.Ser3192Tyr
XM_011514690.1:c.3650C>A	XP_011512992.1:p.Ser1217Tyr
XM_011514691.1:c.3650C>A	XP_011512993.1:p.Ser1217Tyr
XM_011514680.3:c.9575C>A	XP_011512982.1:p.Ser3192Tyr
XM_011514682.3:c.9437C>A	XP_011512984.1:p.Ser3146Tyr
XM_011514683.3:c.8933C>A	XP_011512985.1:p.Ser2978Tyr
XM_011514684.3:c.8864C>A	XP_011512986.1:p.Ser2955Tyr
XM_011514686.2:c.9575C>A	XP_011512988.1:p.Ser3192Tyr
XM_011514688.2:c.9575C>A	XP_011512990.1:p.Ser3192Tyr
XM_011514690.3:c.3650C>A	XP_011512992.1:p.Ser1217Tyr
XM_011514691.3:c.3650C>A	XP_011512993.1:p.Ser1217Tyr
XM_017010944.2:c.9575C>A	XP_016866433.1:p.Ser3192Tyr
XM_017010945.2:c.9500C>A	XP_016866434.1:p.Ser3167Tyr
XM_017010946.2:c.9380C>A	XP_016866435.1:p.Ser3127Tyr
XM_017010947.2:c.9311C>A	XP_016866436.1:p.Ser3104Tyr
XM_017010948.2:c.8864C>A	XP_016866437.1:p.Ser2955Tyr
XM_017010949.2:c.7715C>A	XP_016866438.1:p.Ser2572Tyr
XM_017010950.1:c.9575C>A	XP_016866439.1:p.Ser3192Tyr
XR_001743469.1:n.9851C>A
NM_138694.4:c.9575C>A MANE Select	NP_619639.3:p.Ser3192Tyr
NM_170724.3:c.9575C>A	NP_733842.2:p.Ser3192Tyr