Canonical Allele Identifier: CA394336233

Gene: PKD1 PKD1-AS1

Linked Data

• dbSNP Id: rs567145434
• gnomAD v2: 16-2142520-G-C
• gnomAD v3: 16-2092519-G-C
• gnomAD v4: 16-2092519-G-C
• MyVariant Identifiers: chr16:g.2142520G>C (hg19) ; chr16:g.2092519G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092519G>C , CM000678.2:g.2092519G>C	GRCh38
NC_000016.9:g.2142520G>C , CM000678.1:g.2142520G>C	GRCh37
NC_000016.8:g.2082521G>C	NCBI36
NG_008617.1:g.50702C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11230C>G (PKD1) MANE Select	ENSP00000262304.4:p.Leu3744Val
ENST00000262304.8:c.11230C>G (PKD1)	ENSP00000262304.4:p.Leu3744Val
ENST00000423118.5:c.11227C>G (PKD1)	ENSP00000399501.1:p.Leu3743Val
ENST00000485120.1:n.79C>G (PKD1)
ENST00000487932.5:c.5792C>G (PKD1)	ENSP00000457132.1:n.5792C>G
ENST00000562425.1:c.343C>G (PKD1)
ENST00000567355.1:n.393C>G (PKD1)
NM_000296.3:c.11227C>G (PKD1)	NP_000287.3:p.Leu3743Val
NM_001009944.2:c.11230C>G (PKD1)	NP_001009944.2:p.Leu3744Val
XM_005255370.2:c.8185C>G (PKD1)	XP_005255427.1:p.Leu2729Val
XM_011522525.1:c.11308C>G (PKD1)	XP_011520827.1:p.Leu3770Val
XM_011522526.1:c.11305C>G (PKD1)	XP_011520828.1:p.Leu3769Val
XM_011522527.1:c.11290C>G (PKD1)	XP_011520829.1:p.Leu3764Val
XM_011522528.1:c.11284C>G (PKD1)	XP_011520830.1:p.Leu3762Val
XM_011522529.1:c.11281C>G (PKD1)	XP_011520831.1:p.Leu3761Val
XM_011522530.1:c.11254C>G (PKD1)	XP_011520832.1:p.Leu3752Val
XM_011522531.1:c.11236C>G (PKD1)	XP_011520833.1:p.Leu3746Val
XM_011522532.1:c.11182C>G (PKD1)	XP_011520834.1:p.Leu3728Val
XM_011522533.1:c.11101C>G (PKD1)	XP_011520835.1:p.Leu3701Val
XM_011522534.1:c.11044C>G (PKD1)	XP_011520836.1:p.Leu3682Val
XM_011522535.1:c.9130C>G (PKD1)	XP_011520837.1:p.Leu3044Val
XM_011522537.1:c.8308C>G (PKD1)	XP_011520839.1:p.Leu2770Val
XR_932867.1:n.11323C>G (PKD1)
XR_932868.1:n.11110-331C>G (PKD1)
XR_932869.1:n.11110-331C>G (PKD1)
XR_932870.1:n.11183C>G (PKD1)
XR_933000.1:n.90-370G>C (PKD1-AS1)
XR_933001.1:n.180-370G>C (PKD1-AS1)
XR_933002.1:n.89-370G>C (PKD1-AS1)
XR_933003.1:n.89-370G>C (PKD1-AS1)
NR_135175.1:n.180-370G>C (PKD1-AS1)
XM_005255370.3:c.8185C>G (PKD1)	XP_005255427.1:p.Leu2729Val
XM_011522528.3:c.11284C>G (PKD1)	XP_011520830.1:p.Leu3762Val
XM_011522529.2:c.11281C>G (PKD1)	XP_011520831.1:p.Leu3761Val
XM_011522537.2:c.8308C>G (PKD1)	XP_011520839.1:p.Leu2770Val
XM_024450298.1:c.11350C>G (PKD1)	XP_024306066.1:p.Leu3784Val
XM_024450299.1:c.11278C>G (PKD1)	XP_024306067.1:p.Leu3760Val
XM_024450300.1:c.11140C>G (PKD1)	XP_024306068.1:p.Leu3714Val
XM_024450301.1:c.9226C>G (PKD1)	XP_024306069.1:p.Leu3076Val
NM_000296.4:c.11227C>G (PKD1)	NP_000287.4:p.Leu3743Val
NM_001009944.3:c.11230C>G (PKD1) MANE Select	NP_001009944.3:p.Leu3744Val