Canonical Allele Identifier: CA492962425

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2142494C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092493C>T , CM000678.2:g.2092493C>T	GRCh38
NC_000016.9:g.2142494C>T , CM000678.1:g.2142494C>T	GRCh37
NC_000016.8:g.2082495C>T	NCBI36
NG_008617.1:g.50728G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.11256G>A (PKD1) MANE Select	ENSP00000262304.4:p.Val3752=
ENST00000262304.8:c.11256G>A (PKD1)	ENSP00000262304.4:p.Val3752=
ENST00000423118.5:c.11253G>A (PKD1)	ENSP00000399501.1:p.Val3751=
ENST00000485120.1:n.105G>A (PKD1)
ENST00000487932.5:c.5818G>A (PKD1)	ENSP00000457132.1:n.5818G>A
ENST00000562425.1:c.369G>A (PKD1)
ENST00000567355.1:n.419G>A (PKD1)
NM_000296.3:c.11253G>A (PKD1)	NP_000287.3:p.Val3751=
NM_001009944.2:c.11256G>A (PKD1)	NP_001009944.2:p.Val3752=
XM_005255370.2:c.8211G>A (PKD1)	XP_005255427.1:p.Val2737=
XM_011522525.1:c.11334G>A (PKD1)	XP_011520827.1:p.Val3778=
XM_011522526.1:c.11331G>A (PKD1)	XP_011520828.1:p.Val3777=
XM_011522527.1:c.11316G>A (PKD1)	XP_011520829.1:p.Val3772=
XM_011522528.1:c.11310G>A (PKD1)	XP_011520830.1:p.Val3770=
XM_011522529.1:c.11307G>A (PKD1)	XP_011520831.1:p.Val3769=
XM_011522530.1:c.11280G>A (PKD1)	XP_011520832.1:p.Val3760=
XM_011522531.1:c.11262G>A (PKD1)	XP_011520833.1:p.Val3754=
XM_011522532.1:c.11208G>A (PKD1)	XP_011520834.1:p.Val3736=
XM_011522533.1:c.11127G>A (PKD1)	XP_011520835.1:p.Val3709=
XM_011522534.1:c.11070G>A (PKD1)	XP_011520836.1:p.Val3690=
XM_011522535.1:c.9156G>A (PKD1)	XP_011520837.1:p.Val3052=
XM_011522537.1:c.8334G>A (PKD1)	XP_011520839.1:p.Val2778=
XR_932867.1:n.11349G>A (PKD1)
XR_932868.1:n.11110-305G>A (PKD1)
XR_932869.1:n.11110-305G>A (PKD1)
XR_932870.1:n.11209G>A (PKD1)
XR_933000.1:n.90-396C>T (PKD1-AS1)
XR_933001.1:n.180-396C>T (PKD1-AS1)
XR_933002.1:n.89-396C>T (PKD1-AS1)
XR_933003.1:n.89-396C>T (PKD1-AS1)
NR_135175.1:n.180-396C>T (PKD1-AS1)
XM_005255370.3:c.8211G>A (PKD1)	XP_005255427.1:p.Val2737=
XM_011522528.3:c.11310G>A (PKD1)	XP_011520830.1:p.Val3770=
XM_011522529.2:c.11307G>A (PKD1)	XP_011520831.1:p.Val3769=
XM_011522537.2:c.8334G>A (PKD1)	XP_011520839.1:p.Val2778=
XM_024450298.1:c.11376G>A (PKD1)	XP_024306066.1:p.Val3792=
XM_024450299.1:c.11304G>A (PKD1)	XP_024306067.1:p.Val3768=
XM_024450300.1:c.11166G>A (PKD1)	XP_024306068.1:p.Val3722=
XM_024450301.1:c.9252G>A (PKD1)	XP_024306069.1:p.Val3084=
NM_000296.4:c.11253G>A (PKD1)	NP_000287.4:p.Val3751=
NM_001009944.3:c.11256G>A (PKD1) MANE Select	NP_001009944.3:p.Val3752=