Canonical Allele Identifier: CA394336365

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2142558A>G (hg19) ; chr16:g.2092557A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092557A>G , CM000678.2:g.2092557A>G	GRCh38
NC_000016.9:g.2142558A>G , CM000678.1:g.2142558A>G	GRCh37
NC_000016.8:g.2082559A>G	NCBI36
NG_008617.1:g.50664T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11192T>C (PKD1) MANE Select	ENSP00000262304.4:p.Leu3731Pro
ENST00000262304.8:c.11192T>C (PKD1)	ENSP00000262304.4:p.Leu3731Pro
ENST00000423118.5:c.11189T>C (PKD1)	ENSP00000399501.1:p.Leu3730Pro
ENST00000485120.1:n.41T>C (PKD1)
ENST00000487932.5:c.5754T>C (PKD1)	ENSP00000457132.1:n.5754T>C
ENST00000562425.1:c.305T>C (PKD1)
ENST00000567355.1:n.355T>C (PKD1)
NM_000296.3:c.11189T>C (PKD1)	NP_000287.3:p.Leu3730Pro
NM_001009944.2:c.11192T>C (PKD1)	NP_001009944.2:p.Leu3731Pro
XM_005255370.2:c.8147T>C (PKD1)	XP_005255427.1:p.Leu2716Pro
XM_011522525.1:c.11270T>C (PKD1)	XP_011520827.1:p.Leu3757Pro
XM_011522526.1:c.11267T>C (PKD1)	XP_011520828.1:p.Leu3756Pro
XM_011522527.1:c.11252T>C (PKD1)	XP_011520829.1:p.Leu3751Pro
XM_011522528.1:c.11246T>C (PKD1)	XP_011520830.1:p.Leu3749Pro
XM_011522529.1:c.11243T>C (PKD1)	XP_011520831.1:p.Leu3748Pro
XM_011522530.1:c.11216T>C (PKD1)	XP_011520832.1:p.Leu3739Pro
XM_011522531.1:c.11198T>C (PKD1)	XP_011520833.1:p.Leu3733Pro
XM_011522532.1:c.11144T>C (PKD1)	XP_011520834.1:p.Leu3715Pro
XM_011522533.1:c.11063T>C (PKD1)	XP_011520835.1:p.Leu3688Pro
XM_011522534.1:c.11006T>C (PKD1)	XP_011520836.1:p.Leu3669Pro
XM_011522535.1:c.9092T>C (PKD1)	XP_011520837.1:p.Leu3031Pro
XM_011522537.1:c.8270T>C (PKD1)	XP_011520839.1:p.Leu2757Pro
XR_932867.1:n.11285T>C (PKD1)
XR_932868.1:n.11110-369T>C (PKD1)
XR_932869.1:n.11110-369T>C (PKD1)
XR_932870.1:n.11145T>C (PKD1)
XR_933000.1:n.90-332A>G (PKD1-AS1)
XR_933001.1:n.180-332A>G (PKD1-AS1)
XR_933002.1:n.89-332A>G (PKD1-AS1)
XR_933003.1:n.89-332A>G (PKD1-AS1)
NR_135175.1:n.180-332A>G (PKD1-AS1)
XM_005255370.3:c.8147T>C (PKD1)	XP_005255427.1:p.Leu2716Pro
XM_011522528.3:c.11246T>C (PKD1)	XP_011520830.1:p.Leu3749Pro
XM_011522529.2:c.11243T>C (PKD1)	XP_011520831.1:p.Leu3748Pro
XM_011522537.2:c.8270T>C (PKD1)	XP_011520839.1:p.Leu2757Pro
XM_024450298.1:c.11312T>C (PKD1)	XP_024306066.1:p.Leu3771Pro
XM_024450299.1:c.11240T>C (PKD1)	XP_024306067.1:p.Leu3747Pro
XM_024450300.1:c.11102T>C (PKD1)	XP_024306068.1:p.Leu3701Pro
XM_024450301.1:c.9188T>C (PKD1)	XP_024306069.1:p.Leu3063Pro
NM_000296.4:c.11189T>C (PKD1)	NP_000287.4:p.Leu3730Pro
NM_001009944.3:c.11192T>C (PKD1) MANE Select	NP_001009944.3:p.Leu3731Pro