Canonical Allele Identifier: CA276767347

Gene: PKD1 PKD1-AS1

Linked Data

• dbSNP Id: rs866331895
• gnomAD v4: 16-2092577-C-A
• MyVariant Identifiers: chr16:g.2142578C>A (hg19) ; chr16:g.2092577C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092577C>A , CM000678.2:g.2092577C>A	GRCh38
NC_000016.9:g.2142578C>A , CM000678.1:g.2142578C>A	GRCh37
NC_000016.8:g.2082579C>A	NCBI36
NG_008617.1:g.50644G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11172G>T (PKD1) MANE Select	ENSP00000262304.4:p.Trp3724Cys
ENST00000262304.8:c.11172G>T (PKD1)	ENSP00000262304.4:p.Trp3724Cys
ENST00000423118.5:c.11169G>T (PKD1)	ENSP00000399501.1:p.Trp3723Cys
ENST00000485120.1:n.21G>T (PKD1)
ENST00000487932.5:c.5734G>T (PKD1)	ENSP00000457132.1:n.5734G>T
ENST00000562425.1:c.285G>T (PKD1)
ENST00000567355.1:n.335G>T (PKD1)
NM_000296.3:c.11169G>T (PKD1)	NP_000287.3:p.Trp3723Cys
NM_001009944.2:c.11172G>T (PKD1)	NP_001009944.2:p.Trp3724Cys
XM_005255370.2:c.8127G>T (PKD1)	XP_005255427.1:p.Trp2709Cys
XM_011522525.1:c.11250G>T (PKD1)	XP_011520827.1:p.Trp3750Cys
XM_011522526.1:c.11247G>T (PKD1)	XP_011520828.1:p.Trp3749Cys
XM_011522527.1:c.11232G>T (PKD1)	XP_011520829.1:p.Trp3744Cys
XM_011522528.1:c.11226G>T (PKD1)	XP_011520830.1:p.Trp3742Cys
XM_011522529.1:c.11223G>T (PKD1)	XP_011520831.1:p.Trp3741Cys
XM_011522530.1:c.11196G>T (PKD1)	XP_011520832.1:p.Trp3732Cys
XM_011522531.1:c.11178G>T (PKD1)	XP_011520833.1:p.Trp3726Cys
XM_011522532.1:c.11124G>T (PKD1)	XP_011520834.1:p.Trp3708Cys
XM_011522533.1:c.11043G>T (PKD1)	XP_011520835.1:p.Trp3681Cys
XM_011522534.1:c.10986G>T (PKD1)	XP_011520836.1:p.Trp3662Cys
XM_011522535.1:c.9072G>T (PKD1)	XP_011520837.1:p.Trp3024Cys
XM_011522537.1:c.8250G>T (PKD1)	XP_011520839.1:p.Trp2750Cys
XR_932867.1:n.11265G>T (PKD1)
XR_932868.1:n.11110-389G>T (PKD1)
XR_932869.1:n.11110-389G>T (PKD1)
XR_932870.1:n.11125G>T (PKD1)
XR_933000.1:n.90-312C>A (PKD1-AS1)
XR_933001.1:n.180-312C>A (PKD1-AS1)
XR_933002.1:n.89-312C>A (PKD1-AS1)
XR_933003.1:n.89-312C>A (PKD1-AS1)
NR_135175.1:n.180-312C>A (PKD1-AS1)
XM_005255370.3:c.8127G>T (PKD1)	XP_005255427.1:p.Trp2709Cys
XM_011522528.3:c.11226G>T (PKD1)	XP_011520830.1:p.Trp3742Cys
XM_011522529.2:c.11223G>T (PKD1)	XP_011520831.1:p.Trp3741Cys
XM_011522537.2:c.8250G>T (PKD1)	XP_011520839.1:p.Trp2750Cys
XM_024450298.1:c.11292G>T (PKD1)	XP_024306066.1:p.Trp3764Cys
XM_024450299.1:c.11220G>T (PKD1)	XP_024306067.1:p.Trp3740Cys
XM_024450300.1:c.11082G>T (PKD1)	XP_024306068.1:p.Trp3694Cys
XM_024450301.1:c.9168G>T (PKD1)	XP_024306069.1:p.Trp3056Cys
NM_000296.4:c.11169G>T (PKD1)	NP_000287.4:p.Trp3723Cys
NM_001009944.3:c.11172G>T (PKD1) MANE Select	NP_001009944.3:p.Trp3724Cys