Canonical Allele Identifier: CA394336432

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2092569-A-G
• MyVariant Identifiers: chr16:g.2142570A>G (hg19) ; chr16:g.2092569A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092569A>G , CM000678.2:g.2092569A>G	GRCh38
NC_000016.9:g.2142570A>G , CM000678.1:g.2142570A>G	GRCh37
NC_000016.8:g.2082571A>G	NCBI36
NG_008617.1:g.50652T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11180T>C (PKD1) MANE Select	ENSP00000262304.4:p.Met3727Thr
ENST00000262304.8:c.11180T>C (PKD1)	ENSP00000262304.4:p.Met3727Thr
ENST00000423118.5:c.11177T>C (PKD1)	ENSP00000399501.1:p.Met3726Thr
ENST00000485120.1:n.29T>C (PKD1)
ENST00000487932.5:c.5742T>C (PKD1)	ENSP00000457132.1:n.5742T>C
ENST00000562425.1:c.293T>C (PKD1)
ENST00000567355.1:n.343T>C (PKD1)
NM_000296.3:c.11177T>C (PKD1)	NP_000287.3:p.Met3726Thr
NM_001009944.2:c.11180T>C (PKD1)	NP_001009944.2:p.Met3727Thr
XM_005255370.2:c.8135T>C (PKD1)	XP_005255427.1:p.Met2712Thr
XM_011522525.1:c.11258T>C (PKD1)	XP_011520827.1:p.Met3753Thr
XM_011522526.1:c.11255T>C (PKD1)	XP_011520828.1:p.Met3752Thr
XM_011522527.1:c.11240T>C (PKD1)	XP_011520829.1:p.Met3747Thr
XM_011522528.1:c.11234T>C (PKD1)	XP_011520830.1:p.Met3745Thr
XM_011522529.1:c.11231T>C (PKD1)	XP_011520831.1:p.Met3744Thr
XM_011522530.1:c.11204T>C (PKD1)	XP_011520832.1:p.Met3735Thr
XM_011522531.1:c.11186T>C (PKD1)	XP_011520833.1:p.Met3729Thr
XM_011522532.1:c.11132T>C (PKD1)	XP_011520834.1:p.Met3711Thr
XM_011522533.1:c.11051T>C (PKD1)	XP_011520835.1:p.Met3684Thr
XM_011522534.1:c.10994T>C (PKD1)	XP_011520836.1:p.Met3665Thr
XM_011522535.1:c.9080T>C (PKD1)	XP_011520837.1:p.Met3027Thr
XM_011522537.1:c.8258T>C (PKD1)	XP_011520839.1:p.Met2753Thr
XR_932867.1:n.11273T>C (PKD1)
XR_932868.1:n.11110-381T>C (PKD1)
XR_932869.1:n.11110-381T>C (PKD1)
XR_932870.1:n.11133T>C (PKD1)
XR_933000.1:n.90-320A>G (PKD1-AS1)
XR_933001.1:n.180-320A>G (PKD1-AS1)
XR_933002.1:n.89-320A>G (PKD1-AS1)
XR_933003.1:n.89-320A>G (PKD1-AS1)
NR_135175.1:n.180-320A>G (PKD1-AS1)
XM_005255370.3:c.8135T>C (PKD1)	XP_005255427.1:p.Met2712Thr
XM_011522528.3:c.11234T>C (PKD1)	XP_011520830.1:p.Met3745Thr
XM_011522529.2:c.11231T>C (PKD1)	XP_011520831.1:p.Met3744Thr
XM_011522537.2:c.8258T>C (PKD1)	XP_011520839.1:p.Met2753Thr
XM_024450298.1:c.11300T>C (PKD1)	XP_024306066.1:p.Met3767Thr
XM_024450299.1:c.11228T>C (PKD1)	XP_024306067.1:p.Met3743Thr
XM_024450300.1:c.11090T>C (PKD1)	XP_024306068.1:p.Met3697Thr
XM_024450301.1:c.9176T>C (PKD1)	XP_024306069.1:p.Met3059Thr
NM_000296.4:c.11177T>C (PKD1)	NP_000287.4:p.Met3726Thr
NM_001009944.3:c.11180T>C (PKD1) MANE Select	NP_001009944.3:p.Met3727Thr