Canonical Allele Identifier: CA394336088

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2142481C>G (hg19) ; chr16:g.2092480C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092480C>G , CM000678.2:g.2092480C>G	GRCh38
NC_000016.9:g.2142481C>G , CM000678.1:g.2142481C>G	GRCh37
NC_000016.8:g.2082482C>G	NCBI36
NG_008617.1:g.50741G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11269G>C (PKD1) MANE Select	ENSP00000262304.4:p.Ala3757Pro
ENST00000262304.8:c.11269G>C (PKD1)	ENSP00000262304.4:p.Ala3757Pro
ENST00000423118.5:c.11266G>C (PKD1)	ENSP00000399501.1:p.Ala3756Pro
ENST00000485120.1:n.118G>C (PKD1)
ENST00000487932.5:c.5831G>C (PKD1)	ENSP00000457132.1:n.5831G>C
ENST00000562425.1:c.382G>C (PKD1)
ENST00000567355.1:n.432G>C (PKD1)
NM_000296.3:c.11266G>C (PKD1)	NP_000287.3:p.Ala3756Pro
NM_001009944.2:c.11269G>C (PKD1)	NP_001009944.2:p.Ala3757Pro
XM_005255370.2:c.8224G>C (PKD1)	XP_005255427.1:p.Ala2742Pro
XM_011522525.1:c.11347G>C (PKD1)	XP_011520827.1:p.Ala3783Pro
XM_011522526.1:c.11344G>C (PKD1)	XP_011520828.1:p.Ala3782Pro
XM_011522527.1:c.11329G>C (PKD1)	XP_011520829.1:p.Ala3777Pro
XM_011522528.1:c.11323G>C (PKD1)	XP_011520830.1:p.Ala3775Pro
XM_011522529.1:c.11320G>C (PKD1)	XP_011520831.1:p.Ala3774Pro
XM_011522530.1:c.11293G>C (PKD1)	XP_011520832.1:p.Ala3765Pro
XM_011522531.1:c.11275G>C (PKD1)	XP_011520833.1:p.Ala3759Pro
XM_011522532.1:c.11221G>C (PKD1)	XP_011520834.1:p.Ala3741Pro
XM_011522533.1:c.11140G>C (PKD1)	XP_011520835.1:p.Ala3714Pro
XM_011522534.1:c.11083G>C (PKD1)	XP_011520836.1:p.Ala3695Pro
XM_011522535.1:c.9169G>C (PKD1)	XP_011520837.1:p.Ala3057Pro
XM_011522537.1:c.8347G>C (PKD1)	XP_011520839.1:p.Ala2783Pro
XR_932867.1:n.11362G>C (PKD1)
XR_932868.1:n.11110-292G>C (PKD1)
XR_932869.1:n.11110-292G>C (PKD1)
XR_932870.1:n.11222G>C (PKD1)
XR_933000.1:n.90-409C>G (PKD1-AS1)
XR_933001.1:n.180-409C>G (PKD1-AS1)
XR_933002.1:n.89-409C>G (PKD1-AS1)
XR_933003.1:n.89-409C>G (PKD1-AS1)
NR_135175.1:n.180-409C>G (PKD1-AS1)
XM_005255370.3:c.8224G>C (PKD1)	XP_005255427.1:p.Ala2742Pro
XM_011522528.3:c.11323G>C (PKD1)	XP_011520830.1:p.Ala3775Pro
XM_011522529.2:c.11320G>C (PKD1)	XP_011520831.1:p.Ala3774Pro
XM_011522537.2:c.8347G>C (PKD1)	XP_011520839.1:p.Ala2783Pro
XM_024450298.1:c.11389G>C (PKD1)	XP_024306066.1:p.Ala3797Pro
XM_024450299.1:c.11317G>C (PKD1)	XP_024306067.1:p.Ala3773Pro
XM_024450300.1:c.11179G>C (PKD1)	XP_024306068.1:p.Ala3727Pro
XM_024450301.1:c.9265G>C (PKD1)	XP_024306069.1:p.Ala3089Pro
NM_000296.4:c.11266G>C (PKD1)	NP_000287.4:p.Ala3756Pro
NM_001009944.3:c.11269G>C (PKD1) MANE Select	NP_001009944.3:p.Ala3757Pro