Canonical Allele Identifier: CA394336304

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2092546-C-G
• MyVariant Identifiers: chr16:g.2142547C>G (hg19) ; chr16:g.2092546C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092546C>G , CM000678.2:g.2092546C>G	GRCh38
NC_000016.9:g.2142547C>G , CM000678.1:g.2142547C>G	GRCh37
NC_000016.8:g.2082548C>G	NCBI36
NG_008617.1:g.50675G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11203G>C (PKD1) MANE Select	ENSP00000262304.4:p.Val3735Leu
ENST00000262304.8:c.11203G>C (PKD1)	ENSP00000262304.4:p.Val3735Leu
ENST00000423118.5:c.11200G>C (PKD1)	ENSP00000399501.1:p.Val3734Leu
ENST00000485120.1:n.52G>C (PKD1)
ENST00000487932.5:c.5765G>C (PKD1)	ENSP00000457132.1:n.5765G>C
ENST00000562425.1:c.316G>C (PKD1)
ENST00000567355.1:n.366G>C (PKD1)
NM_000296.3:c.11200G>C (PKD1)	NP_000287.3:p.Val3734Leu
NM_001009944.2:c.11203G>C (PKD1)	NP_001009944.2:p.Val3735Leu
XM_005255370.2:c.8158G>C (PKD1)	XP_005255427.1:p.Val2720Leu
XM_011522525.1:c.11281G>C (PKD1)	XP_011520827.1:p.Val3761Leu
XM_011522526.1:c.11278G>C (PKD1)	XP_011520828.1:p.Val3760Leu
XM_011522527.1:c.11263G>C (PKD1)	XP_011520829.1:p.Val3755Leu
XM_011522528.1:c.11257G>C (PKD1)	XP_011520830.1:p.Val3753Leu
XM_011522529.1:c.11254G>C (PKD1)	XP_011520831.1:p.Val3752Leu
XM_011522530.1:c.11227G>C (PKD1)	XP_011520832.1:p.Val3743Leu
XM_011522531.1:c.11209G>C (PKD1)	XP_011520833.1:p.Val3737Leu
XM_011522532.1:c.11155G>C (PKD1)	XP_011520834.1:p.Val3719Leu
XM_011522533.1:c.11074G>C (PKD1)	XP_011520835.1:p.Val3692Leu
XM_011522534.1:c.11017G>C (PKD1)	XP_011520836.1:p.Val3673Leu
XM_011522535.1:c.9103G>C (PKD1)	XP_011520837.1:p.Val3035Leu
XM_011522537.1:c.8281G>C (PKD1)	XP_011520839.1:p.Val2761Leu
XR_932867.1:n.11296G>C (PKD1)
XR_932868.1:n.11110-358G>C (PKD1)
XR_932869.1:n.11110-358G>C (PKD1)
XR_932870.1:n.11156G>C (PKD1)
XR_933000.1:n.90-343C>G (PKD1-AS1)
XR_933001.1:n.180-343C>G (PKD1-AS1)
XR_933002.1:n.89-343C>G (PKD1-AS1)
XR_933003.1:n.89-343C>G (PKD1-AS1)
NR_135175.1:n.180-343C>G (PKD1-AS1)
XM_005255370.3:c.8158G>C (PKD1)	XP_005255427.1:p.Val2720Leu
XM_011522528.3:c.11257G>C (PKD1)	XP_011520830.1:p.Val3753Leu
XM_011522529.2:c.11254G>C (PKD1)	XP_011520831.1:p.Val3752Leu
XM_011522537.2:c.8281G>C (PKD1)	XP_011520839.1:p.Val2761Leu
XM_024450298.1:c.11323G>C (PKD1)	XP_024306066.1:p.Val3775Leu
XM_024450299.1:c.11251G>C (PKD1)	XP_024306067.1:p.Val3751Leu
XM_024450300.1:c.11113G>C (PKD1)	XP_024306068.1:p.Val3705Leu
XM_024450301.1:c.9199G>C (PKD1)	XP_024306069.1:p.Val3067Leu
NM_000296.4:c.11200G>C (PKD1)	NP_000287.4:p.Val3734Leu
NM_001009944.3:c.11203G>C (PKD1) MANE Select	NP_001009944.3:p.Val3735Leu