Canonical Allele Identifier: CA394336148

Gene: PKD1 PKD1-AS1

Linked Data

• ClinVar Variation Id: 2315175
• ClinVar RCV Id: RCV002902128
• dbSNP Id: rs757901097
• gnomAD v3: 16-2092495-C-T
• gnomAD v4: 16-2092495-C-T
• MyVariant Identifiers: chr16:g.2142496C>T (hg19) ; chr16:g.2092495C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092495C>T , CM000678.2:g.2092495C>T	GRCh38
NC_000016.9:g.2142496C>T , CM000678.1:g.2142496C>T	GRCh37
NC_000016.8:g.2082497C>T	NCBI36
NG_008617.1:g.50726G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11254G>A (PKD1) MANE Select	ENSP00000262304.4:p.Val3752Met
ENST00000262304.8:c.11254G>A (PKD1)	ENSP00000262304.4:p.Val3752Met
ENST00000423118.5:c.11251G>A (PKD1)	ENSP00000399501.1:p.Val3751Met
ENST00000485120.1:n.103G>A (PKD1)
ENST00000487932.5:c.5816G>A (PKD1)	ENSP00000457132.1:n.5816G>A
ENST00000562425.1:c.367G>A (PKD1)
ENST00000567355.1:n.417G>A (PKD1)
NM_000296.3:c.11251G>A (PKD1)	NP_000287.3:p.Val3751Met
NM_001009944.2:c.11254G>A (PKD1)	NP_001009944.2:p.Val3752Met
XM_005255370.2:c.8209G>A (PKD1)	XP_005255427.1:p.Val2737Met
XM_011522525.1:c.11332G>A (PKD1)	XP_011520827.1:p.Val3778Met
XM_011522526.1:c.11329G>A (PKD1)	XP_011520828.1:p.Val3777Met
XM_011522527.1:c.11314G>A (PKD1)	XP_011520829.1:p.Val3772Met
XM_011522528.1:c.11308G>A (PKD1)	XP_011520830.1:p.Val3770Met
XM_011522529.1:c.11305G>A (PKD1)	XP_011520831.1:p.Val3769Met
XM_011522530.1:c.11278G>A (PKD1)	XP_011520832.1:p.Val3760Met
XM_011522531.1:c.11260G>A (PKD1)	XP_011520833.1:p.Val3754Met
XM_011522532.1:c.11206G>A (PKD1)	XP_011520834.1:p.Val3736Met
XM_011522533.1:c.11125G>A (PKD1)	XP_011520835.1:p.Val3709Met
XM_011522534.1:c.11068G>A (PKD1)	XP_011520836.1:p.Val3690Met
XM_011522535.1:c.9154G>A (PKD1)	XP_011520837.1:p.Val3052Met
XM_011522537.1:c.8332G>A (PKD1)	XP_011520839.1:p.Val2778Met
XR_932867.1:n.11347G>A (PKD1)
XR_932868.1:n.11110-307G>A (PKD1)
XR_932869.1:n.11110-307G>A (PKD1)
XR_932870.1:n.11207G>A (PKD1)
XR_933000.1:n.90-394C>T (PKD1-AS1)
XR_933001.1:n.180-394C>T (PKD1-AS1)
XR_933002.1:n.89-394C>T (PKD1-AS1)
XR_933003.1:n.89-394C>T (PKD1-AS1)
NR_135175.1:n.180-394C>T (PKD1-AS1)
XM_005255370.3:c.8209G>A (PKD1)	XP_005255427.1:p.Val2737Met
XM_011522528.3:c.11308G>A (PKD1)	XP_011520830.1:p.Val3770Met
XM_011522529.2:c.11305G>A (PKD1)	XP_011520831.1:p.Val3769Met
XM_011522537.2:c.8332G>A (PKD1)	XP_011520839.1:p.Val2778Met
XM_024450298.1:c.11374G>A (PKD1)	XP_024306066.1:p.Val3792Met
XM_024450299.1:c.11302G>A (PKD1)	XP_024306067.1:p.Val3768Met
XM_024450300.1:c.11164G>A (PKD1)	XP_024306068.1:p.Val3722Met
XM_024450301.1:c.9250G>A (PKD1)	XP_024306069.1:p.Val3084Met
NM_000296.4:c.11251G>A (PKD1)	NP_000287.4:p.Val3751Met
NM_001009944.3:c.11254G>A (PKD1) MANE Select	NP_001009944.3:p.Val3752Met