Canonical Allele Identifier: CA493044974

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2094111-T-G
• MyVariant Identifiers: chr16:g.2144112T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2094111T>G , CM000678.2:g.2094111T>G	GRCh38
NC_000016.9:g.2144112T>G , CM000678.1:g.2144112T>G	GRCh37
NC_000016.8:g.2084113T>G	NCBI36
NG_008617.1:g.49110A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.10599A>C (PKD1) MANE Select	ENSP00000262304.4:p.Ala3533=
ENST00000262304.8:c.10599A>C (PKD1)	ENSP00000262304.4:p.Ala3533=
ENST00000423118.5:c.10596A>C (PKD1)	ENSP00000399501.1:p.Ala3532=
ENST00000472659.1:n.36A>C (PKD1)
ENST00000487932.5:c.5161A>C (PKD1)	ENSP00000457132.1:n.5161A>C
NM_000296.3:c.10596A>C (PKD1)	NP_000287.3:p.Ala3532=
NM_001009944.2:c.10599A>C (PKD1)	NP_001009944.2:p.Ala3533=
XM_005255370.2:c.7554A>C (PKD1)	XP_005255427.1:p.Ala2518=
XM_011522525.1:c.10677A>C (PKD1)	XP_011520827.1:p.Ala3559=
XM_011522526.1:c.10674A>C (PKD1)	XP_011520828.1:p.Ala3558=
XM_011522527.1:c.10659A>C (PKD1)	XP_011520829.1:p.Ala3553=
XM_011522528.1:c.10653A>C (PKD1)	XP_011520830.1:p.Ala3551=
XM_011522529.1:c.10650A>C (PKD1)	XP_011520831.1:p.Ala3550=
XM_011522530.1:c.10623A>C (PKD1)	XP_011520832.1:p.Ala3541=
XM_011522531.1:c.10605A>C (PKD1)	XP_011520833.1:p.Ala3535=
XM_011522532.1:c.10551A>C (PKD1)	XP_011520834.1:p.Ala3517=
XM_011522533.1:c.10470A>C (PKD1)	XP_011520835.1:p.Ala3490=
XM_011522534.1:c.10413A>C (PKD1)	XP_011520836.1:p.Ala3471=
XM_011522535.1:c.8499A>C (PKD1)	XP_011520837.1:p.Ala2833=
XM_011522537.1:c.7677A>C (PKD1)	XP_011520839.1:p.Ala2559=
XR_932867.1:n.10692A>C (PKD1)
XR_932868.1:n.10692A>C (PKD1)
XR_932869.1:n.10692A>C (PKD1)
XR_932870.1:n.10692A>C (PKD1)
XR_933000.1:n.214-567T>G (PKD1-AS1)
XR_933001.1:n.304-610T>G (PKD1-AS1)
XR_933002.1:n.213-567T>G (PKD1-AS1)
XR_933003.1:n.213-610T>G (PKD1-AS1)
NR_135175.1:n.304-610T>G (PKD1-AS1)
XM_005255370.3:c.7554A>C (PKD1)	XP_005255427.1:p.Ala2518=
XM_011522528.3:c.10653A>C (PKD1)	XP_011520830.1:p.Ala3551=
XM_011522529.2:c.10650A>C (PKD1)	XP_011520831.1:p.Ala3550=
XM_011522537.2:c.7677A>C (PKD1)	XP_011520839.1:p.Ala2559=
XM_024450298.1:c.10719A>C (PKD1)	XP_024306066.1:p.Ala3573=
XM_024450299.1:c.10647A>C (PKD1)	XP_024306067.1:p.Ala3549=
XM_024450300.1:c.10509A>C (PKD1)	XP_024306068.1:p.Ala3503=
XM_024450301.1:c.8595A>C (PKD1)	XP_024306069.1:p.Ala2865=
NM_000296.4:c.10596A>C (PKD1)	NP_000287.4:p.Ala3532=
NM_001009944.3:c.10599A>C (PKD1) MANE Select	NP_001009944.3:p.Ala3533=