Canonical Allele Identifier: CA394336128

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2092489-G-T
• MyVariant Identifiers: chr16:g.2142490G>T (hg19) ; chr16:g.2092489G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092489G>T , CM000678.2:g.2092489G>T	GRCh38
NC_000016.9:g.2142490G>T , CM000678.1:g.2142490G>T	GRCh37
NC_000016.8:g.2082491G>T	NCBI36
NG_008617.1:g.50732C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.11260C>A (PKD1) MANE Select	ENSP00000262304.4:p.Leu3754Met
ENST00000262304.8:c.11260C>A (PKD1)	ENSP00000262304.4:p.Leu3754Met
ENST00000423118.5:c.11257C>A (PKD1)	ENSP00000399501.1:p.Leu3753Met
ENST00000485120.1:n.109C>A (PKD1)
ENST00000487932.5:c.5822C>A (PKD1)	ENSP00000457132.1:n.5822C>A
ENST00000562425.1:c.373C>A (PKD1)
ENST00000567355.1:n.423C>A (PKD1)
NM_000296.3:c.11257C>A (PKD1)	NP_000287.3:p.Leu3753Met
NM_001009944.2:c.11260C>A (PKD1)	NP_001009944.2:p.Leu3754Met
XM_005255370.2:c.8215C>A (PKD1)	XP_005255427.1:p.Leu2739Met
XM_011522525.1:c.11338C>A (PKD1)	XP_011520827.1:p.Leu3780Met
XM_011522526.1:c.11335C>A (PKD1)	XP_011520828.1:p.Leu3779Met
XM_011522527.1:c.11320C>A (PKD1)	XP_011520829.1:p.Leu3774Met
XM_011522528.1:c.11314C>A (PKD1)	XP_011520830.1:p.Leu3772Met
XM_011522529.1:c.11311C>A (PKD1)	XP_011520831.1:p.Leu3771Met
XM_011522530.1:c.11284C>A (PKD1)	XP_011520832.1:p.Leu3762Met
XM_011522531.1:c.11266C>A (PKD1)	XP_011520833.1:p.Leu3756Met
XM_011522532.1:c.11212C>A (PKD1)	XP_011520834.1:p.Leu3738Met
XM_011522533.1:c.11131C>A (PKD1)	XP_011520835.1:p.Leu3711Met
XM_011522534.1:c.11074C>A (PKD1)	XP_011520836.1:p.Leu3692Met
XM_011522535.1:c.9160C>A (PKD1)	XP_011520837.1:p.Leu3054Met
XM_011522537.1:c.8338C>A (PKD1)	XP_011520839.1:p.Leu2780Met
XR_932867.1:n.11353C>A (PKD1)
XR_932868.1:n.11110-301C>A (PKD1)
XR_932869.1:n.11110-301C>A (PKD1)
XR_932870.1:n.11213C>A (PKD1)
XR_933000.1:n.90-400G>T (PKD1-AS1)
XR_933001.1:n.180-400G>T (PKD1-AS1)
XR_933002.1:n.89-400G>T (PKD1-AS1)
XR_933003.1:n.89-400G>T (PKD1-AS1)
NR_135175.1:n.180-400G>T (PKD1-AS1)
XM_005255370.3:c.8215C>A (PKD1)	XP_005255427.1:p.Leu2739Met
XM_011522528.3:c.11314C>A (PKD1)	XP_011520830.1:p.Leu3772Met
XM_011522529.2:c.11311C>A (PKD1)	XP_011520831.1:p.Leu3771Met
XM_011522537.2:c.8338C>A (PKD1)	XP_011520839.1:p.Leu2780Met
XM_024450298.1:c.11380C>A (PKD1)	XP_024306066.1:p.Leu3794Met
XM_024450299.1:c.11308C>A (PKD1)	XP_024306067.1:p.Leu3770Met
XM_024450300.1:c.11170C>A (PKD1)	XP_024306068.1:p.Leu3724Met
XM_024450301.1:c.9256C>A (PKD1)	XP_024306069.1:p.Leu3086Met
NM_000296.4:c.11257C>A (PKD1)	NP_000287.4:p.Leu3753Met
NM_001009944.3:c.11260C>A (PKD1) MANE Select	NP_001009944.3:p.Leu3754Met