Canonical Allele Identifier: CA364420929

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51612915T>G (hg19) ; chr6:g.51748117T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748117T>G , CM000668.2:g.51748117T>G	GRCh38
NC_000006.11:g.51612915T>G , CM000668.1:g.51612915T>G	GRCh37
NC_000006.10:g.51720874T>G	NCBI36
NG_008753.1:g.344509A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9499A>C MANE Select	ENSP00000360158.3:p.Ile3167Leu
ENST00000340994.4:c.9499A>C	ENSP00000341097.4:p.Ile3167Leu
ENST00000371117.7:c.9499A>C	ENSP00000360158.3:p.Ile3167Leu
NM_138694.3:c.9499A>C	NP_619639.3:p.Ile3167Leu
NM_170724.2:c.9499A>C	NP_733842.2:p.Ile3167Leu
XM_011514679.1:c.9499A>C	XP_011512981.1:p.Ile3167Leu
XM_011514680.1:c.9499A>C	XP_011512982.1:p.Ile3167Leu
XM_011514681.1:c.9370A>C	XP_011512983.1:p.Ile3124Leu
XM_011514682.1:c.9361A>C	XP_011512984.1:p.Ile3121Leu
XM_011514683.1:c.8857A>C	XP_011512985.1:p.Ile2953Leu
XM_011514684.1:c.8788A>C	XP_011512986.1:p.Ile2930Leu
XM_011514685.1:c.9499A>C	XP_011512987.1:p.Ile3167Leu
XM_011514686.1:c.9499A>C	XP_011512988.1:p.Ile3167Leu
XM_011514687.1:c.9499A>C	XP_011512989.1:p.Ile3167Leu
XM_011514688.1:c.9499A>C	XP_011512990.1:p.Ile3167Leu
XM_011514690.1:c.3574A>C	XP_011512992.1:p.Ile1192Leu
XM_011514691.1:c.3574A>C	XP_011512993.1:p.Ile1192Leu
XM_011514680.3:c.9499A>C	XP_011512982.1:p.Ile3167Leu
XM_011514682.3:c.9361A>C	XP_011512984.1:p.Ile3121Leu
XM_011514683.3:c.8857A>C	XP_011512985.1:p.Ile2953Leu
XM_011514684.3:c.8788A>C	XP_011512986.1:p.Ile2930Leu
XM_011514686.2:c.9499A>C	XP_011512988.1:p.Ile3167Leu
XM_011514688.2:c.9499A>C	XP_011512990.1:p.Ile3167Leu
XM_011514690.3:c.3574A>C	XP_011512992.1:p.Ile1192Leu
XM_011514691.3:c.3574A>C	XP_011512993.1:p.Ile1192Leu
XM_017010944.2:c.9499A>C	XP_016866433.1:p.Ile3167Leu
XM_017010945.2:c.9424A>C	XP_016866434.1:p.Ile3142Leu
XM_017010946.2:c.9304A>C	XP_016866435.1:p.Ile3102Leu
XM_017010947.2:c.9235A>C	XP_016866436.1:p.Ile3079Leu
XM_017010948.2:c.8788A>C	XP_016866437.1:p.Ile2930Leu
XM_017010949.2:c.7639A>C	XP_016866438.1:p.Ile2547Leu
XM_017010950.1:c.9499A>C	XP_016866439.1:p.Ile3167Leu
XR_001743469.1:n.9775A>C
NM_138694.4:c.9499A>C MANE Select	NP_619639.3:p.Ile3167Leu
NM_170724.3:c.9499A>C	NP_733842.2:p.Ile3167Leu