Canonical Allele Identifier: CA394336249

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2142523C>T (hg19) ; chr16:g.2092522C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092522C>T , CM000678.2:g.2092522C>T	GRCh38
NC_000016.9:g.2142523C>T , CM000678.1:g.2142523C>T	GRCh37
NC_000016.8:g.2082524C>T	NCBI36
NG_008617.1:g.50699G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11227G>A (PKD1) MANE Select	ENSP00000262304.4:p.Glu3743Lys
ENST00000262304.8:c.11227G>A (PKD1)	ENSP00000262304.4:p.Glu3743Lys
ENST00000423118.5:c.11224G>A (PKD1)	ENSP00000399501.1:p.Glu3742Lys
ENST00000485120.1:n.76G>A (PKD1)
ENST00000487932.5:c.5789G>A (PKD1)	ENSP00000457132.1:n.5789G>A
ENST00000562425.1:c.340G>A (PKD1)
ENST00000567355.1:n.390G>A (PKD1)
NM_000296.3:c.11224G>A (PKD1)	NP_000287.3:p.Glu3742Lys
NM_001009944.2:c.11227G>A (PKD1)	NP_001009944.2:p.Glu3743Lys
XM_005255370.2:c.8182G>A (PKD1)	XP_005255427.1:p.Glu2728Lys
XM_011522525.1:c.11305G>A (PKD1)	XP_011520827.1:p.Glu3769Lys
XM_011522526.1:c.11302G>A (PKD1)	XP_011520828.1:p.Glu3768Lys
XM_011522527.1:c.11287G>A (PKD1)	XP_011520829.1:p.Glu3763Lys
XM_011522528.1:c.11281G>A (PKD1)	XP_011520830.1:p.Glu3761Lys
XM_011522529.1:c.11278G>A (PKD1)	XP_011520831.1:p.Glu3760Lys
XM_011522530.1:c.11251G>A (PKD1)	XP_011520832.1:p.Glu3751Lys
XM_011522531.1:c.11233G>A (PKD1)	XP_011520833.1:p.Glu3745Lys
XM_011522532.1:c.11179G>A (PKD1)	XP_011520834.1:p.Glu3727Lys
XM_011522533.1:c.11098G>A (PKD1)	XP_011520835.1:p.Glu3700Lys
XM_011522534.1:c.11041G>A (PKD1)	XP_011520836.1:p.Glu3681Lys
XM_011522535.1:c.9127G>A (PKD1)	XP_011520837.1:p.Glu3043Lys
XM_011522537.1:c.8305G>A (PKD1)	XP_011520839.1:p.Glu2769Lys
XR_932867.1:n.11320G>A (PKD1)
XR_932868.1:n.11110-334G>A (PKD1)
XR_932869.1:n.11110-334G>A (PKD1)
XR_932870.1:n.11180G>A (PKD1)
XR_933000.1:n.90-367C>T (PKD1-AS1)
XR_933001.1:n.180-367C>T (PKD1-AS1)
XR_933002.1:n.89-367C>T (PKD1-AS1)
XR_933003.1:n.89-367C>T (PKD1-AS1)
NR_135175.1:n.180-367C>T (PKD1-AS1)
XM_005255370.3:c.8182G>A (PKD1)	XP_005255427.1:p.Glu2728Lys
XM_011522528.3:c.11281G>A (PKD1)	XP_011520830.1:p.Glu3761Lys
XM_011522529.2:c.11278G>A (PKD1)	XP_011520831.1:p.Glu3760Lys
XM_011522537.2:c.8305G>A (PKD1)	XP_011520839.1:p.Glu2769Lys
XM_024450298.1:c.11347G>A (PKD1)	XP_024306066.1:p.Glu3783Lys
XM_024450299.1:c.11275G>A (PKD1)	XP_024306067.1:p.Glu3759Lys
XM_024450300.1:c.11137G>A (PKD1)	XP_024306068.1:p.Glu3713Lys
XM_024450301.1:c.9223G>A (PKD1)	XP_024306069.1:p.Glu3075Lys
NM_000296.4:c.11224G>A (PKD1)	NP_000287.4:p.Glu3742Lys
NM_001009944.3:c.11227G>A (PKD1) MANE Select	NP_001009944.3:p.Glu3743Lys