Canonical Allele Identifier: CA394336292

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2142543T>G (hg19) ; chr16:g.2092542T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092542T>G , CM000678.2:g.2092542T>G	GRCh38
NC_000016.9:g.2142543T>G , CM000678.1:g.2142543T>G	GRCh37
NC_000016.8:g.2082544T>G	NCBI36
NG_008617.1:g.50679A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11207A>C (PKD1) MANE Select	ENSP00000262304.4:p.His3736Pro
ENST00000262304.8:c.11207A>C (PKD1)	ENSP00000262304.4:p.His3736Pro
ENST00000423118.5:c.11204A>C (PKD1)	ENSP00000399501.1:p.His3735Pro
ENST00000485120.1:n.56A>C (PKD1)
ENST00000487932.5:c.5769A>C (PKD1)	ENSP00000457132.1:n.5769A>C
ENST00000562425.1:c.320A>C (PKD1)
ENST00000567355.1:n.370A>C (PKD1)
NM_000296.3:c.11204A>C (PKD1)	NP_000287.3:p.His3735Pro
NM_001009944.2:c.11207A>C (PKD1)	NP_001009944.2:p.His3736Pro
XM_005255370.2:c.8162A>C (PKD1)	XP_005255427.1:p.His2721Pro
XM_011522525.1:c.11285A>C (PKD1)	XP_011520827.1:p.His3762Pro
XM_011522526.1:c.11282A>C (PKD1)	XP_011520828.1:p.His3761Pro
XM_011522527.1:c.11267A>C (PKD1)	XP_011520829.1:p.His3756Pro
XM_011522528.1:c.11261A>C (PKD1)	XP_011520830.1:p.His3754Pro
XM_011522529.1:c.11258A>C (PKD1)	XP_011520831.1:p.His3753Pro
XM_011522530.1:c.11231A>C (PKD1)	XP_011520832.1:p.His3744Pro
XM_011522531.1:c.11213A>C (PKD1)	XP_011520833.1:p.His3738Pro
XM_011522532.1:c.11159A>C (PKD1)	XP_011520834.1:p.His3720Pro
XM_011522533.1:c.11078A>C (PKD1)	XP_011520835.1:p.His3693Pro
XM_011522534.1:c.11021A>C (PKD1)	XP_011520836.1:p.His3674Pro
XM_011522535.1:c.9107A>C (PKD1)	XP_011520837.1:p.His3036Pro
XM_011522537.1:c.8285A>C (PKD1)	XP_011520839.1:p.His2762Pro
XR_932867.1:n.11300A>C (PKD1)
XR_932868.1:n.11110-354A>C (PKD1)
XR_932869.1:n.11110-354A>C (PKD1)
XR_932870.1:n.11160A>C (PKD1)
XR_933000.1:n.90-347T>G (PKD1-AS1)
XR_933001.1:n.180-347T>G (PKD1-AS1)
XR_933002.1:n.89-347T>G (PKD1-AS1)
XR_933003.1:n.89-347T>G (PKD1-AS1)
NR_135175.1:n.180-347T>G (PKD1-AS1)
XM_005255370.3:c.8162A>C (PKD1)	XP_005255427.1:p.His2721Pro
XM_011522528.3:c.11261A>C (PKD1)	XP_011520830.1:p.His3754Pro
XM_011522529.2:c.11258A>C (PKD1)	XP_011520831.1:p.His3753Pro
XM_011522537.2:c.8285A>C (PKD1)	XP_011520839.1:p.His2762Pro
XM_024450298.1:c.11327A>C (PKD1)	XP_024306066.1:p.His3776Pro
XM_024450299.1:c.11255A>C (PKD1)	XP_024306067.1:p.His3752Pro
XM_024450300.1:c.11117A>C (PKD1)	XP_024306068.1:p.His3706Pro
XM_024450301.1:c.9203A>C (PKD1)	XP_024306069.1:p.His3068Pro
NM_000296.4:c.11204A>C (PKD1)	NP_000287.4:p.His3735Pro
NM_001009944.3:c.11207A>C (PKD1) MANE Select	NP_001009944.3:p.His3736Pro