Canonical Allele Identifier: CA394336490

Gene: PKD1 PKD1-AS1

Linked Data

• dbSNP Id: rs2091645912
• gnomAD v3: 16-2092578-C-T
• gnomAD v4: 16-2092578-C-T
• MyVariant Identifiers: chr16:g.2142579C>T (hg19) ; chr16:g.2092578C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092578C>T , CM000678.2:g.2092578C>T	GRCh38
NC_000016.9:g.2142579C>T , CM000678.1:g.2142579C>T	GRCh37
NC_000016.8:g.2082580C>T	NCBI36
NG_008617.1:g.50643G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11171G>A (PKD1) MANE Select	ENSP00000262304.4:p.Trp3724Ter
ENST00000262304.8:c.11171G>A (PKD1)	ENSP00000262304.4:p.Trp3724Ter
ENST00000423118.5:c.11168G>A (PKD1)	ENSP00000399501.1:p.Trp3723Ter
ENST00000485120.1:n.20G>A (PKD1)
ENST00000487932.5:c.5733G>A (PKD1)	ENSP00000457132.1:n.5733G>A
ENST00000562425.1:c.284G>A (PKD1)
ENST00000567355.1:n.334G>A (PKD1)
NM_000296.3:c.11168G>A (PKD1)	NP_000287.3:p.Trp3723Ter
NM_001009944.2:c.11171G>A (PKD1)	NP_001009944.2:p.Trp3724Ter
XM_005255370.2:c.8126G>A (PKD1)	XP_005255427.1:p.Trp2709Ter
XM_011522525.1:c.11249G>A (PKD1)	XP_011520827.1:p.Trp3750Ter
XM_011522526.1:c.11246G>A (PKD1)	XP_011520828.1:p.Trp3749Ter
XM_011522527.1:c.11231G>A (PKD1)	XP_011520829.1:p.Trp3744Ter
XM_011522528.1:c.11225G>A (PKD1)	XP_011520830.1:p.Trp3742Ter
XM_011522529.1:c.11222G>A (PKD1)	XP_011520831.1:p.Trp3741Ter
XM_011522530.1:c.11195G>A (PKD1)	XP_011520832.1:p.Trp3732Ter
XM_011522531.1:c.11177G>A (PKD1)	XP_011520833.1:p.Trp3726Ter
XM_011522532.1:c.11123G>A (PKD1)	XP_011520834.1:p.Trp3708Ter
XM_011522533.1:c.11042G>A (PKD1)	XP_011520835.1:p.Trp3681Ter
XM_011522534.1:c.10985G>A (PKD1)	XP_011520836.1:p.Trp3662Ter
XM_011522535.1:c.9071G>A (PKD1)	XP_011520837.1:p.Trp3024Ter
XM_011522537.1:c.8249G>A (PKD1)	XP_011520839.1:p.Trp2750Ter
XR_932867.1:n.11264G>A (PKD1)
XR_932868.1:n.11110-390G>A (PKD1)
XR_932869.1:n.11110-390G>A (PKD1)
XR_932870.1:n.11124G>A (PKD1)
XR_933000.1:n.90-311C>T (PKD1-AS1)
XR_933001.1:n.180-311C>T (PKD1-AS1)
XR_933002.1:n.89-311C>T (PKD1-AS1)
XR_933003.1:n.89-311C>T (PKD1-AS1)
NR_135175.1:n.180-311C>T (PKD1-AS1)
XM_005255370.3:c.8126G>A (PKD1)	XP_005255427.1:p.Trp2709Ter
XM_011522528.3:c.11225G>A (PKD1)	XP_011520830.1:p.Trp3742Ter
XM_011522529.2:c.11222G>A (PKD1)	XP_011520831.1:p.Trp3741Ter
XM_011522537.2:c.8249G>A (PKD1)	XP_011520839.1:p.Trp2750Ter
XM_024450298.1:c.11291G>A (PKD1)	XP_024306066.1:p.Trp3764Ter
XM_024450299.1:c.11219G>A (PKD1)	XP_024306067.1:p.Trp3740Ter
XM_024450300.1:c.11081G>A (PKD1)	XP_024306068.1:p.Trp3694Ter
XM_024450301.1:c.9167G>A (PKD1)	XP_024306069.1:p.Trp3056Ter
NM_000296.4:c.11168G>A (PKD1)	NP_000287.4:p.Trp3723Ter
NM_001009944.3:c.11171G>A (PKD1) MANE Select	NP_001009944.3:p.Trp3724Ter