Canonical Allele Identifier: CA492962497

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2142575T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092574T>G , CM000678.2:g.2092574T>G	GRCh38
NC_000016.9:g.2142575T>G , CM000678.1:g.2142575T>G	GRCh37
NC_000016.8:g.2082576T>G	NCBI36
NG_008617.1:g.50647A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11175A>C (PKD1) MANE Select	ENSP00000262304.4:p.Pro3725=
ENST00000262304.8:c.11175A>C (PKD1)	ENSP00000262304.4:p.Pro3725=
ENST00000423118.5:c.11172A>C (PKD1)	ENSP00000399501.1:p.Pro3724=
ENST00000485120.1:n.24A>C (PKD1)
ENST00000487932.5:c.5737A>C (PKD1)	ENSP00000457132.1:n.5737A>C
ENST00000562425.1:c.288A>C (PKD1)
ENST00000567355.1:n.338A>C (PKD1)
NM_000296.3:c.11172A>C (PKD1)	NP_000287.3:p.Pro3724=
NM_001009944.2:c.11175A>C (PKD1)	NP_001009944.2:p.Pro3725=
XM_005255370.2:c.8130A>C (PKD1)	XP_005255427.1:p.Pro2710=
XM_011522525.1:c.11253A>C (PKD1)	XP_011520827.1:p.Pro3751=
XM_011522526.1:c.11250A>C (PKD1)	XP_011520828.1:p.Pro3750=
XM_011522527.1:c.11235A>C (PKD1)	XP_011520829.1:p.Pro3745=
XM_011522528.1:c.11229A>C (PKD1)	XP_011520830.1:p.Pro3743=
XM_011522529.1:c.11226A>C (PKD1)	XP_011520831.1:p.Pro3742=
XM_011522530.1:c.11199A>C (PKD1)	XP_011520832.1:p.Pro3733=
XM_011522531.1:c.11181A>C (PKD1)	XP_011520833.1:p.Pro3727=
XM_011522532.1:c.11127A>C (PKD1)	XP_011520834.1:p.Pro3709=
XM_011522533.1:c.11046A>C (PKD1)	XP_011520835.1:p.Pro3682=
XM_011522534.1:c.10989A>C (PKD1)	XP_011520836.1:p.Pro3663=
XM_011522535.1:c.9075A>C (PKD1)	XP_011520837.1:p.Pro3025=
XM_011522537.1:c.8253A>C (PKD1)	XP_011520839.1:p.Pro2751=
XR_932867.1:n.11268A>C (PKD1)
XR_932868.1:n.11110-386A>C (PKD1)
XR_932869.1:n.11110-386A>C (PKD1)
XR_932870.1:n.11128A>C (PKD1)
XR_933000.1:n.90-315T>G (PKD1-AS1)
XR_933001.1:n.180-315T>G (PKD1-AS1)
XR_933002.1:n.89-315T>G (PKD1-AS1)
XR_933003.1:n.89-315T>G (PKD1-AS1)
NR_135175.1:n.180-315T>G (PKD1-AS1)
XM_005255370.3:c.8130A>C (PKD1)	XP_005255427.1:p.Pro2710=
XM_011522528.3:c.11229A>C (PKD1)	XP_011520830.1:p.Pro3743=
XM_011522529.2:c.11226A>C (PKD1)	XP_011520831.1:p.Pro3742=
XM_011522537.2:c.8253A>C (PKD1)	XP_011520839.1:p.Pro2751=
XM_024450298.1:c.11295A>C (PKD1)	XP_024306066.1:p.Pro3765=
XM_024450299.1:c.11223A>C (PKD1)	XP_024306067.1:p.Pro3741=
XM_024450300.1:c.11085A>C (PKD1)	XP_024306068.1:p.Pro3695=
XM_024450301.1:c.9171A>C (PKD1)	XP_024306069.1:p.Pro3057=
NM_000296.4:c.11172A>C (PKD1)	NP_000287.4:p.Pro3724=
NM_001009944.3:c.11175A>C (PKD1) MANE Select	NP_001009944.3:p.Pro3725=