Canonical Allele Identifier: CA394336116

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2142487G>C (hg19) ; chr16:g.2092486G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092486G>C , CM000678.2:g.2092486G>C	GRCh38
NC_000016.9:g.2142487G>C , CM000678.1:g.2142487G>C	GRCh37
NC_000016.8:g.2082488G>C	NCBI36
NG_008617.1:g.50735C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.11263C>G (PKD1) MANE Select	ENSP00000262304.4:p.Gln3755Glu
ENST00000262304.8:c.11263C>G (PKD1)	ENSP00000262304.4:p.Gln3755Glu
ENST00000423118.5:c.11260C>G (PKD1)	ENSP00000399501.1:p.Gln3754Glu
ENST00000485120.1:n.112C>G (PKD1)
ENST00000487932.5:c.5825C>G (PKD1)	ENSP00000457132.1:n.5825C>G
ENST00000562425.1:c.376C>G (PKD1)
ENST00000567355.1:n.426C>G (PKD1)
NM_000296.3:c.11260C>G (PKD1)	NP_000287.3:p.Gln3754Glu
NM_001009944.2:c.11263C>G (PKD1)	NP_001009944.2:p.Gln3755Glu
XM_005255370.2:c.8218C>G (PKD1)	XP_005255427.1:p.Gln2740Glu
XM_011522525.1:c.11341C>G (PKD1)	XP_011520827.1:p.Gln3781Glu
XM_011522526.1:c.11338C>G (PKD1)	XP_011520828.1:p.Gln3780Glu
XM_011522527.1:c.11323C>G (PKD1)	XP_011520829.1:p.Gln3775Glu
XM_011522528.1:c.11317C>G (PKD1)	XP_011520830.1:p.Gln3773Glu
XM_011522529.1:c.11314C>G (PKD1)	XP_011520831.1:p.Gln3772Glu
XM_011522530.1:c.11287C>G (PKD1)	XP_011520832.1:p.Gln3763Glu
XM_011522531.1:c.11269C>G (PKD1)	XP_011520833.1:p.Gln3757Glu
XM_011522532.1:c.11215C>G (PKD1)	XP_011520834.1:p.Gln3739Glu
XM_011522533.1:c.11134C>G (PKD1)	XP_011520835.1:p.Gln3712Glu
XM_011522534.1:c.11077C>G (PKD1)	XP_011520836.1:p.Gln3693Glu
XM_011522535.1:c.9163C>G (PKD1)	XP_011520837.1:p.Gln3055Glu
XM_011522537.1:c.8341C>G (PKD1)	XP_011520839.1:p.Gln2781Glu
XR_932867.1:n.11356C>G (PKD1)
XR_932868.1:n.11110-298C>G (PKD1)
XR_932869.1:n.11110-298C>G (PKD1)
XR_932870.1:n.11216C>G (PKD1)
XR_933000.1:n.90-403G>C (PKD1-AS1)
XR_933001.1:n.180-403G>C (PKD1-AS1)
XR_933002.1:n.89-403G>C (PKD1-AS1)
XR_933003.1:n.89-403G>C (PKD1-AS1)
NR_135175.1:n.180-403G>C (PKD1-AS1)
XM_005255370.3:c.8218C>G (PKD1)	XP_005255427.1:p.Gln2740Glu
XM_011522528.3:c.11317C>G (PKD1)	XP_011520830.1:p.Gln3773Glu
XM_011522529.2:c.11314C>G (PKD1)	XP_011520831.1:p.Gln3772Glu
XM_011522537.2:c.8341C>G (PKD1)	XP_011520839.1:p.Gln2781Glu
XM_024450298.1:c.11383C>G (PKD1)	XP_024306066.1:p.Gln3795Glu
XM_024450299.1:c.11311C>G (PKD1)	XP_024306067.1:p.Gln3771Glu
XM_024450300.1:c.11173C>G (PKD1)	XP_024306068.1:p.Gln3725Glu
XM_024450301.1:c.9259C>G (PKD1)	XP_024306069.1:p.Gln3087Glu
NM_000296.4:c.11260C>G (PKD1)	NP_000287.4:p.Gln3754Glu
NM_001009944.3:c.11263C>G (PKD1) MANE Select	NP_001009944.3:p.Gln3755Glu