Canonical Allele Identifier: CA394336271

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2092533-T-G
• MyVariant Identifiers: chr16:g.2142534T>G (hg19) ; chr16:g.2092533T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092533T>G , CM000678.2:g.2092533T>G	GRCh38
NC_000016.9:g.2142534T>G , CM000678.1:g.2142534T>G	GRCh37
NC_000016.8:g.2082535T>G	NCBI36
NG_008617.1:g.50688A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11216A>C (PKD1) MANE Select	ENSP00000262304.4:p.Gln3739Pro
ENST00000262304.8:c.11216A>C (PKD1)	ENSP00000262304.4:p.Gln3739Pro
ENST00000423118.5:c.11213A>C (PKD1)	ENSP00000399501.1:p.Gln3738Pro
ENST00000485120.1:n.65A>C (PKD1)
ENST00000487932.5:c.5778A>C (PKD1)	ENSP00000457132.1:n.5778A>C
ENST00000562425.1:c.329A>C (PKD1)
ENST00000567355.1:n.379A>C (PKD1)
NM_000296.3:c.11213A>C (PKD1)	NP_000287.3:p.Gln3738Pro
NM_001009944.2:c.11216A>C (PKD1)	NP_001009944.2:p.Gln3739Pro
XM_005255370.2:c.8171A>C (PKD1)	XP_005255427.1:p.Gln2724Pro
XM_011522525.1:c.11294A>C (PKD1)	XP_011520827.1:p.Gln3765Pro
XM_011522526.1:c.11291A>C (PKD1)	XP_011520828.1:p.Gln3764Pro
XM_011522527.1:c.11276A>C (PKD1)	XP_011520829.1:p.Gln3759Pro
XM_011522528.1:c.11270A>C (PKD1)	XP_011520830.1:p.Gln3757Pro
XM_011522529.1:c.11267A>C (PKD1)	XP_011520831.1:p.Gln3756Pro
XM_011522530.1:c.11240A>C (PKD1)	XP_011520832.1:p.Gln3747Pro
XM_011522531.1:c.11222A>C (PKD1)	XP_011520833.1:p.Gln3741Pro
XM_011522532.1:c.11168A>C (PKD1)	XP_011520834.1:p.Gln3723Pro
XM_011522533.1:c.11087A>C (PKD1)	XP_011520835.1:p.Gln3696Pro
XM_011522534.1:c.11030A>C (PKD1)	XP_011520836.1:p.Gln3677Pro
XM_011522535.1:c.9116A>C (PKD1)	XP_011520837.1:p.Gln3039Pro
XM_011522537.1:c.8294A>C (PKD1)	XP_011520839.1:p.Gln2765Pro
XR_932867.1:n.11309A>C (PKD1)
XR_932868.1:n.11110-345A>C (PKD1)
XR_932869.1:n.11110-345A>C (PKD1)
XR_932870.1:n.11169A>C (PKD1)
XR_933000.1:n.90-356T>G (PKD1-AS1)
XR_933001.1:n.180-356T>G (PKD1-AS1)
XR_933002.1:n.89-356T>G (PKD1-AS1)
XR_933003.1:n.89-356T>G (PKD1-AS1)
NR_135175.1:n.180-356T>G (PKD1-AS1)
XM_005255370.3:c.8171A>C (PKD1)	XP_005255427.1:p.Gln2724Pro
XM_011522528.3:c.11270A>C (PKD1)	XP_011520830.1:p.Gln3757Pro
XM_011522529.2:c.11267A>C (PKD1)	XP_011520831.1:p.Gln3756Pro
XM_011522537.2:c.8294A>C (PKD1)	XP_011520839.1:p.Gln2765Pro
XM_024450298.1:c.11336A>C (PKD1)	XP_024306066.1:p.Gln3779Pro
XM_024450299.1:c.11264A>C (PKD1)	XP_024306067.1:p.Gln3755Pro
XM_024450300.1:c.11126A>C (PKD1)	XP_024306068.1:p.Gln3709Pro
XM_024450301.1:c.9212A>C (PKD1)	XP_024306069.1:p.Gln3071Pro
NM_000296.4:c.11213A>C (PKD1)	NP_000287.4:p.Gln3738Pro
NM_001009944.3:c.11216A>C (PKD1) MANE Select	NP_001009944.3:p.Gln3739Pro