Canonical Allele Identifier: CA276768788

Gene: PKD1 PKD1-AS1

Linked Data

• dbSNP Id: rs370190268
• gnomAD v2: 16-2144081-A-G
• gnomAD v3: 16-2094080-A-G
• gnomAD v4: 16-2094080-A-G
• MyVariant Identifiers: chr16:g.2144081A>G (hg19) ; chr16:g.2094080A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2094080A>G , CM000678.2:g.2094080A>G	GRCh38
NC_000016.9:g.2144081A>G , CM000678.1:g.2144081A>G	GRCh37
NC_000016.8:g.2084082A>G	NCBI36
NG_008617.1:g.49141T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.10618+12T>C (PKD1) MANE Select	ENSP00000262304.4:n.10618+12T>C
ENST00000262304.8:c.10618+12T>C (PKD1)	ENSP00000262304.4:n.10618+12T>C
ENST00000423118.5:c.10615+12T>C (PKD1)	ENSP00000399501.1:n.10615+12T>C
ENST00000472659.1:n.55+12T>C (PKD1)
ENST00000487932.5:c.5180+12T>C (PKD1)	ENSP00000457132.1:n.5180+12T>C
NM_000296.3:c.10615+12T>C (PKD1)	NP_000287.3:n.10615+12T>C
NM_001009944.2:c.10618+12T>C (PKD1)	NP_001009944.2:n.10618+12T>C
XM_005255370.2:c.7573+12T>C (PKD1)	XP_005255427.1:n.7573+12T>C
XM_011522525.1:c.10696+12T>C (PKD1)	XP_011520827.1:n.10696+12T>C
XM_011522526.1:c.10693+12T>C (PKD1)	XP_011520828.1:n.10693+12T>C
XM_011522527.1:c.10678+12T>C (PKD1)	XP_011520829.1:n.10678+12T>C
XM_011522528.1:c.10672+12T>C (PKD1)	XP_011520830.1:n.10672+12T>C
XM_011522529.1:c.10669+12T>C (PKD1)	XP_011520831.1:n.10669+12T>C
XM_011522530.1:c.10642+12T>C (PKD1)	XP_011520832.1:n.10642+12T>C
XM_011522531.1:c.10624+12T>C (PKD1)	XP_011520833.1:n.10624+12T>C
XM_011522532.1:c.10570+12T>C (PKD1)	XP_011520834.1:n.10570+12T>C
XM_011522533.1:c.10489+12T>C (PKD1)	XP_011520835.1:n.10489+12T>C
XM_011522534.1:c.10432+12T>C (PKD1)	XP_011520836.1:n.10432+12T>C
XM_011522535.1:c.8518+12T>C (PKD1)	XP_011520837.1:n.8518+12T>C
XM_011522537.1:c.7696+12T>C (PKD1)	XP_011520839.1:n.7696+12T>C
XR_932867.1:n.10711+12T>C (PKD1)
XR_932868.1:n.10711+12T>C (PKD1)
XR_932869.1:n.10711+12T>C (PKD1)
XR_932870.1:n.10711+12T>C (PKD1)
XR_933000.1:n.214-598A>G (PKD1-AS1)
XR_933001.1:n.304-641A>G (PKD1-AS1)
XR_933002.1:n.213-598A>G (PKD1-AS1)
XR_933003.1:n.213-641A>G (PKD1-AS1)
NR_135175.1:n.304-641A>G (PKD1-AS1)
XM_005255370.3:c.7573+12T>C (PKD1)	XP_005255427.1:n.7573+12T>C
XM_011522528.3:c.10672+12T>C (PKD1)	XP_011520830.1:n.10672+12T>C
XM_011522529.2:c.10669+12T>C (PKD1)	XP_011520831.1:n.10669+12T>C
XM_011522537.2:c.7696+12T>C (PKD1)	XP_011520839.1:n.7696+12T>C
XM_024450298.1:c.10738+12T>C (PKD1)	XP_024306066.1:n.10738+12T>C
XM_024450299.1:c.10666+12T>C (PKD1)	XP_024306067.1:n.10666+12T>C
XM_024450300.1:c.10528+12T>C (PKD1)	XP_024306068.1:n.10528+12T>C
XM_024450301.1:c.8614+12T>C (PKD1)	XP_024306069.1:n.8614+12T>C
NM_000296.4:c.10615+12T>C (PKD1)	NP_000287.4:n.10615+12T>C
NM_001009944.3:c.10618+12T>C (PKD1) MANE Select	NP_001009944.3:n.10618+12T>C