Canonical Allele Identifier: CA394336111

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2092485-T-C
• MyVariant Identifiers: chr16:g.2142486T>C (hg19) ; chr16:g.2092485T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092485T>C , CM000678.2:g.2092485T>C	GRCh38
NC_000016.9:g.2142486T>C , CM000678.1:g.2142486T>C	GRCh37
NC_000016.8:g.2082487T>C	NCBI36
NG_008617.1:g.50736A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.11264A>G (PKD1) MANE Select	ENSP00000262304.4:p.Gln3755Arg
ENST00000262304.8:c.11264A>G (PKD1)	ENSP00000262304.4:p.Gln3755Arg
ENST00000423118.5:c.11261A>G (PKD1)	ENSP00000399501.1:p.Gln3754Arg
ENST00000485120.1:n.113A>G (PKD1)
ENST00000487932.5:c.5826A>G (PKD1)	ENSP00000457132.1:n.5826A>G
ENST00000562425.1:c.377A>G (PKD1)
ENST00000567355.1:n.427A>G (PKD1)
NM_000296.3:c.11261A>G (PKD1)	NP_000287.3:p.Gln3754Arg
NM_001009944.2:c.11264A>G (PKD1)	NP_001009944.2:p.Gln3755Arg
XM_005255370.2:c.8219A>G (PKD1)	XP_005255427.1:p.Gln2740Arg
XM_011522525.1:c.11342A>G (PKD1)	XP_011520827.1:p.Gln3781Arg
XM_011522526.1:c.11339A>G (PKD1)	XP_011520828.1:p.Gln3780Arg
XM_011522527.1:c.11324A>G (PKD1)	XP_011520829.1:p.Gln3775Arg
XM_011522528.1:c.11318A>G (PKD1)	XP_011520830.1:p.Gln3773Arg
XM_011522529.1:c.11315A>G (PKD1)	XP_011520831.1:p.Gln3772Arg
XM_011522530.1:c.11288A>G (PKD1)	XP_011520832.1:p.Gln3763Arg
XM_011522531.1:c.11270A>G (PKD1)	XP_011520833.1:p.Gln3757Arg
XM_011522532.1:c.11216A>G (PKD1)	XP_011520834.1:p.Gln3739Arg
XM_011522533.1:c.11135A>G (PKD1)	XP_011520835.1:p.Gln3712Arg
XM_011522534.1:c.11078A>G (PKD1)	XP_011520836.1:p.Gln3693Arg
XM_011522535.1:c.9164A>G (PKD1)	XP_011520837.1:p.Gln3055Arg
XM_011522537.1:c.8342A>G (PKD1)	XP_011520839.1:p.Gln2781Arg
XR_932867.1:n.11357A>G (PKD1)
XR_932868.1:n.11110-297A>G (PKD1)
XR_932869.1:n.11110-297A>G (PKD1)
XR_932870.1:n.11217A>G (PKD1)
XR_933000.1:n.90-404T>C (PKD1-AS1)
XR_933001.1:n.180-404T>C (PKD1-AS1)
XR_933002.1:n.89-404T>C (PKD1-AS1)
XR_933003.1:n.89-404T>C (PKD1-AS1)
NR_135175.1:n.180-404T>C (PKD1-AS1)
XM_005255370.3:c.8219A>G (PKD1)	XP_005255427.1:p.Gln2740Arg
XM_011522528.3:c.11318A>G (PKD1)	XP_011520830.1:p.Gln3773Arg
XM_011522529.2:c.11315A>G (PKD1)	XP_011520831.1:p.Gln3772Arg
XM_011522537.2:c.8342A>G (PKD1)	XP_011520839.1:p.Gln2781Arg
XM_024450298.1:c.11384A>G (PKD1)	XP_024306066.1:p.Gln3795Arg
XM_024450299.1:c.11312A>G (PKD1)	XP_024306067.1:p.Gln3771Arg
XM_024450300.1:c.11174A>G (PKD1)	XP_024306068.1:p.Gln3725Arg
XM_024450301.1:c.9260A>G (PKD1)	XP_024306069.1:p.Gln3087Arg
NM_000296.4:c.11261A>G (PKD1)	NP_000287.4:p.Gln3754Arg
NM_001009944.3:c.11264A>G (PKD1) MANE Select	NP_001009944.3:p.Gln3755Arg