Canonical Allele Identifier: CA620705464

Gene: PKD1 PKD1-AS1

Linked Data

• dbSNP Id: rs2855359
• gnomAD v2: 16-2144039-G-A
• gnomAD v3: 16-2094038-G-A
• gnomAD v4: 16-2094038-G-A
• MyVariant Identifiers: chr16:g.2144039G>A (hg19) ; chr16:g.2094038G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2094038G>A , CM000678.2:g.2094038G>A	GRCh38
NC_000016.9:g.2144039G>A , CM000678.1:g.2144039G>A	GRCh37
NC_000016.8:g.2084040G>A	NCBI36
NG_008617.1:g.49183C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.10619-25C>T (PKD1) MANE Select	ENSP00000262304.4:n.10619-25C>T
ENST00000262304.8:c.10619-25C>T (PKD1)	ENSP00000262304.4:n.10619-25C>T
ENST00000423118.5:c.10616-25C>T (PKD1)	ENSP00000399501.1:n.10616-25C>T
ENST00000472659.1:n.56-25C>T (PKD1)
ENST00000487932.5:c.5181-25C>T (PKD1)	ENSP00000457132.1:n.5181-25C>T
NM_000296.3:c.10616-25C>T (PKD1)	NP_000287.3:n.10616-25C>T
NM_001009944.2:c.10619-25C>T (PKD1)	NP_001009944.2:n.10619-25C>T
XM_005255370.2:c.7574-25C>T (PKD1)	XP_005255427.1:n.7574-25C>T
XM_011522525.1:c.10697-25C>T (PKD1)	XP_011520827.1:n.10697-25C>T
XM_011522526.1:c.10694-25C>T (PKD1)	XP_011520828.1:n.10694-25C>T
XM_011522527.1:c.10679-25C>T (PKD1)	XP_011520829.1:n.10679-25C>T
XM_011522528.1:c.10673-25C>T (PKD1)	XP_011520830.1:n.10673-25C>T
XM_011522529.1:c.10670-25C>T (PKD1)	XP_011520831.1:n.10670-25C>T
XM_011522530.1:c.10643-25C>T (PKD1)	XP_011520832.1:n.10643-25C>T
XM_011522531.1:c.10625-25C>T (PKD1)	XP_011520833.1:n.10625-25C>T
XM_011522532.1:c.10571-25C>T (PKD1)	XP_011520834.1:n.10571-25C>T
XM_011522533.1:c.10490-25C>T (PKD1)	XP_011520835.1:n.10490-25C>T
XM_011522534.1:c.10433-25C>T (PKD1)	XP_011520836.1:n.10433-25C>T
XM_011522535.1:c.8519-25C>T (PKD1)	XP_011520837.1:n.8519-25C>T
XM_011522537.1:c.7697-25C>T (PKD1)	XP_011520839.1:n.7697-25C>T
XR_932867.1:n.10712-25C>T (PKD1)
XR_932868.1:n.10712-25C>T (PKD1)
XR_932869.1:n.10712-25C>T (PKD1)
XR_932870.1:n.10712-25C>T (PKD1)
XR_933000.1:n.214-640G>A (PKD1-AS1)
XR_933001.1:n.304-683G>A (PKD1-AS1)
XR_933002.1:n.213-640G>A (PKD1-AS1)
XR_933003.1:n.213-683G>A (PKD1-AS1)
NR_135175.1:n.304-683G>A (PKD1-AS1)
XM_005255370.3:c.7574-25C>T (PKD1)	XP_005255427.1:n.7574-25C>T
XM_011522528.3:c.10673-25C>T (PKD1)	XP_011520830.1:n.10673-25C>T
XM_011522529.2:c.10670-25C>T (PKD1)	XP_011520831.1:n.10670-25C>T
XM_011522537.2:c.7697-25C>T (PKD1)	XP_011520839.1:n.7697-25C>T
XM_024450298.1:c.10739-25C>T (PKD1)	XP_024306066.1:n.10739-25C>T
XM_024450299.1:c.10667-25C>T (PKD1)	XP_024306067.1:n.10667-25C>T
XM_024450300.1:c.10529-25C>T (PKD1)	XP_024306068.1:n.10529-25C>T
XM_024450301.1:c.8615-25C>T (PKD1)	XP_024306069.1:n.8615-25C>T
NM_000296.4:c.10616-25C>T (PKD1)	NP_000287.4:n.10616-25C>T
NM_001009944.3:c.10619-25C>T (PKD1) MANE Select	NP_001009944.3:n.10619-25C>T