Canonical Allele Identifier: CA394336429

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2142569C>T (hg19) ; chr16:g.2092568C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092568C>T , CM000678.2:g.2092568C>T	GRCh38
NC_000016.9:g.2142569C>T , CM000678.1:g.2142569C>T	GRCh37
NC_000016.8:g.2082570C>T	NCBI36
NG_008617.1:g.50653G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11181G>A (PKD1) MANE Select	ENSP00000262304.4:p.Met3727Ile
ENST00000262304.8:c.11181G>A (PKD1)	ENSP00000262304.4:p.Met3727Ile
ENST00000423118.5:c.11178G>A (PKD1)	ENSP00000399501.1:p.Met3726Ile
ENST00000485120.1:n.30G>A (PKD1)
ENST00000487932.5:c.5743G>A (PKD1)	ENSP00000457132.1:n.5743G>A
ENST00000562425.1:c.294G>A (PKD1)
ENST00000567355.1:n.344G>A (PKD1)
NM_000296.3:c.11178G>A (PKD1)	NP_000287.3:p.Met3726Ile
NM_001009944.2:c.11181G>A (PKD1)	NP_001009944.2:p.Met3727Ile
XM_005255370.2:c.8136G>A (PKD1)	XP_005255427.1:p.Met2712Ile
XM_011522525.1:c.11259G>A (PKD1)	XP_011520827.1:p.Met3753Ile
XM_011522526.1:c.11256G>A (PKD1)	XP_011520828.1:p.Met3752Ile
XM_011522527.1:c.11241G>A (PKD1)	XP_011520829.1:p.Met3747Ile
XM_011522528.1:c.11235G>A (PKD1)	XP_011520830.1:p.Met3745Ile
XM_011522529.1:c.11232G>A (PKD1)	XP_011520831.1:p.Met3744Ile
XM_011522530.1:c.11205G>A (PKD1)	XP_011520832.1:p.Met3735Ile
XM_011522531.1:c.11187G>A (PKD1)	XP_011520833.1:p.Met3729Ile
XM_011522532.1:c.11133G>A (PKD1)	XP_011520834.1:p.Met3711Ile
XM_011522533.1:c.11052G>A (PKD1)	XP_011520835.1:p.Met3684Ile
XM_011522534.1:c.10995G>A (PKD1)	XP_011520836.1:p.Met3665Ile
XM_011522535.1:c.9081G>A (PKD1)	XP_011520837.1:p.Met3027Ile
XM_011522537.1:c.8259G>A (PKD1)	XP_011520839.1:p.Met2753Ile
XR_932867.1:n.11274G>A (PKD1)
XR_932868.1:n.11110-380G>A (PKD1)
XR_932869.1:n.11110-380G>A (PKD1)
XR_932870.1:n.11134G>A (PKD1)
XR_933000.1:n.90-321C>T (PKD1-AS1)
XR_933001.1:n.180-321C>T (PKD1-AS1)
XR_933002.1:n.89-321C>T (PKD1-AS1)
XR_933003.1:n.89-321C>T (PKD1-AS1)
NR_135175.1:n.180-321C>T (PKD1-AS1)
XM_005255370.3:c.8136G>A (PKD1)	XP_005255427.1:p.Met2712Ile
XM_011522528.3:c.11235G>A (PKD1)	XP_011520830.1:p.Met3745Ile
XM_011522529.2:c.11232G>A (PKD1)	XP_011520831.1:p.Met3744Ile
XM_011522537.2:c.8259G>A (PKD1)	XP_011520839.1:p.Met2753Ile
XM_024450298.1:c.11301G>A (PKD1)	XP_024306066.1:p.Met3767Ile
XM_024450299.1:c.11229G>A (PKD1)	XP_024306067.1:p.Met3743Ile
XM_024450300.1:c.11091G>A (PKD1)	XP_024306068.1:p.Met3697Ile
XM_024450301.1:c.9177G>A (PKD1)	XP_024306069.1:p.Met3059Ile
NM_000296.4:c.11178G>A (PKD1)	NP_000287.4:p.Met3726Ile
NM_001009944.3:c.11181G>A (PKD1) MANE Select	NP_001009944.3:p.Met3727Ile