Canonical Allele Identifier: CA394336251

Gene: PKD1 PKD1-AS1

Linked Data

• dbSNP Id: rs1437932570
• gnomAD v2: 16-2142525-G-C
• gnomAD v3: 16-2092524-G-C
• gnomAD v4: 16-2092524-G-C
• MyVariant Identifiers: chr16:g.2142525G>C (hg19) ; chr16:g.2092524G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092524G>C , CM000678.2:g.2092524G>C	GRCh38
NC_000016.9:g.2142525G>C , CM000678.1:g.2142525G>C	GRCh37
NC_000016.8:g.2082526G>C	NCBI36
NG_008617.1:g.50697C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11225C>G (PKD1) MANE Select	ENSP00000262304.4:p.Pro3742Arg
ENST00000262304.8:c.11225C>G (PKD1)	ENSP00000262304.4:p.Pro3742Arg
ENST00000423118.5:c.11222C>G (PKD1)	ENSP00000399501.1:p.Pro3741Arg
ENST00000485120.1:n.74C>G (PKD1)
ENST00000487932.5:c.5787C>G (PKD1)	ENSP00000457132.1:n.5787C>G
ENST00000562425.1:c.338C>G (PKD1)
ENST00000567355.1:n.388C>G (PKD1)
NM_000296.3:c.11222C>G (PKD1)	NP_000287.3:p.Pro3741Arg
NM_001009944.2:c.11225C>G (PKD1)	NP_001009944.2:p.Pro3742Arg
XM_005255370.2:c.8180C>G (PKD1)	XP_005255427.1:p.Pro2727Arg
XM_011522525.1:c.11303C>G (PKD1)	XP_011520827.1:p.Pro3768Arg
XM_011522526.1:c.11300C>G (PKD1)	XP_011520828.1:p.Pro3767Arg
XM_011522527.1:c.11285C>G (PKD1)	XP_011520829.1:p.Pro3762Arg
XM_011522528.1:c.11279C>G (PKD1)	XP_011520830.1:p.Pro3760Arg
XM_011522529.1:c.11276C>G (PKD1)	XP_011520831.1:p.Pro3759Arg
XM_011522530.1:c.11249C>G (PKD1)	XP_011520832.1:p.Pro3750Arg
XM_011522531.1:c.11231C>G (PKD1)	XP_011520833.1:p.Pro3744Arg
XM_011522532.1:c.11177C>G (PKD1)	XP_011520834.1:p.Pro3726Arg
XM_011522533.1:c.11096C>G (PKD1)	XP_011520835.1:p.Pro3699Arg
XM_011522534.1:c.11039C>G (PKD1)	XP_011520836.1:p.Pro3680Arg
XM_011522535.1:c.9125C>G (PKD1)	XP_011520837.1:p.Pro3042Arg
XM_011522537.1:c.8303C>G (PKD1)	XP_011520839.1:p.Pro2768Arg
XR_932867.1:n.11318C>G (PKD1)
XR_932868.1:n.11110-336C>G (PKD1)
XR_932869.1:n.11110-336C>G (PKD1)
XR_932870.1:n.11178C>G (PKD1)
XR_933000.1:n.90-365G>C (PKD1-AS1)
XR_933001.1:n.180-365G>C (PKD1-AS1)
XR_933002.1:n.89-365G>C (PKD1-AS1)
XR_933003.1:n.89-365G>C (PKD1-AS1)
NR_135175.1:n.180-365G>C (PKD1-AS1)
XM_005255370.3:c.8180C>G (PKD1)	XP_005255427.1:p.Pro2727Arg
XM_011522528.3:c.11279C>G (PKD1)	XP_011520830.1:p.Pro3760Arg
XM_011522529.2:c.11276C>G (PKD1)	XP_011520831.1:p.Pro3759Arg
XM_011522537.2:c.8303C>G (PKD1)	XP_011520839.1:p.Pro2768Arg
XM_024450298.1:c.11345C>G (PKD1)	XP_024306066.1:p.Pro3782Arg
XM_024450299.1:c.11273C>G (PKD1)	XP_024306067.1:p.Pro3758Arg
XM_024450300.1:c.11135C>G (PKD1)	XP_024306068.1:p.Pro3712Arg
XM_024450301.1:c.9221C>G (PKD1)	XP_024306069.1:p.Pro3074Arg
NM_000296.4:c.11222C>G (PKD1)	NP_000287.4:p.Pro3741Arg
NM_001009944.3:c.11225C>G (PKD1) MANE Select	NP_001009944.3:p.Pro3742Arg