Canonical Allele Identifier: CA394336150

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2142497C>G (hg19) ; chr16:g.2092496C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092496C>G , CM000678.2:g.2092496C>G	GRCh38
NC_000016.9:g.2142497C>G , CM000678.1:g.2142497C>G	GRCh37
NC_000016.8:g.2082498C>G	NCBI36
NG_008617.1:g.50725G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11253G>C (PKD1) MANE Select	ENSP00000262304.4:p.Gln3751His
ENST00000262304.8:c.11253G>C (PKD1)	ENSP00000262304.4:p.Gln3751His
ENST00000423118.5:c.11250G>C (PKD1)	ENSP00000399501.1:p.Gln3750His
ENST00000485120.1:n.102G>C (PKD1)
ENST00000487932.5:c.5815G>C (PKD1)	ENSP00000457132.1:n.5815G>C
ENST00000562425.1:c.366G>C (PKD1)
ENST00000567355.1:n.416G>C (PKD1)
NM_000296.3:c.11250G>C (PKD1)	NP_000287.3:p.Gln3750His
NM_001009944.2:c.11253G>C (PKD1)	NP_001009944.2:p.Gln3751His
XM_005255370.2:c.8208G>C (PKD1)	XP_005255427.1:p.Gln2736His
XM_011522525.1:c.11331G>C (PKD1)	XP_011520827.1:p.Gln3777His
XM_011522526.1:c.11328G>C (PKD1)	XP_011520828.1:p.Gln3776His
XM_011522527.1:c.11313G>C (PKD1)	XP_011520829.1:p.Gln3771His
XM_011522528.1:c.11307G>C (PKD1)	XP_011520830.1:p.Gln3769His
XM_011522529.1:c.11304G>C (PKD1)	XP_011520831.1:p.Gln3768His
XM_011522530.1:c.11277G>C (PKD1)	XP_011520832.1:p.Gln3759His
XM_011522531.1:c.11259G>C (PKD1)	XP_011520833.1:p.Gln3753His
XM_011522532.1:c.11205G>C (PKD1)	XP_011520834.1:p.Gln3735His
XM_011522533.1:c.11124G>C (PKD1)	XP_011520835.1:p.Gln3708His
XM_011522534.1:c.11067G>C (PKD1)	XP_011520836.1:p.Gln3689His
XM_011522535.1:c.9153G>C (PKD1)	XP_011520837.1:p.Gln3051His
XM_011522537.1:c.8331G>C (PKD1)	XP_011520839.1:p.Gln2777His
XR_932867.1:n.11346G>C (PKD1)
XR_932868.1:n.11110-308G>C (PKD1)
XR_932869.1:n.11110-308G>C (PKD1)
XR_932870.1:n.11206G>C (PKD1)
XR_933000.1:n.90-393C>G (PKD1-AS1)
XR_933001.1:n.180-393C>G (PKD1-AS1)
XR_933002.1:n.89-393C>G (PKD1-AS1)
XR_933003.1:n.89-393C>G (PKD1-AS1)
NR_135175.1:n.180-393C>G (PKD1-AS1)
XM_005255370.3:c.8208G>C (PKD1)	XP_005255427.1:p.Gln2736His
XM_011522528.3:c.11307G>C (PKD1)	XP_011520830.1:p.Gln3769His
XM_011522529.2:c.11304G>C (PKD1)	XP_011520831.1:p.Gln3768His
XM_011522537.2:c.8331G>C (PKD1)	XP_011520839.1:p.Gln2777His
XM_024450298.1:c.11373G>C (PKD1)	XP_024306066.1:p.Gln3791His
XM_024450299.1:c.11301G>C (PKD1)	XP_024306067.1:p.Gln3767His
XM_024450300.1:c.11163G>C (PKD1)	XP_024306068.1:p.Gln3721His
XM_024450301.1:c.9249G>C (PKD1)	XP_024306069.1:p.Gln3083His
NM_000296.4:c.11250G>C (PKD1)	NP_000287.4:p.Gln3750His
NM_001009944.3:c.11253G>C (PKD1) MANE Select	NP_001009944.3:p.Gln3751His