Canonical Allele Identifier: CA394336211

Gene: PKD1 PKD1-AS1

Linked Data

• dbSNP Id: rs1293754672
• gnomAD v2: 16-2142514-G-C
• gnomAD v4: 16-2092513-G-C
• MyVariant Identifiers: chr16:g.2142514G>C (hg19) ; chr16:g.2092513G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092513G>C , CM000678.2:g.2092513G>C	GRCh38
NC_000016.9:g.2142514G>C , CM000678.1:g.2142514G>C	GRCh37
NC_000016.8:g.2082515G>C	NCBI36
NG_008617.1:g.50708C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11236C>G (PKD1) MANE Select	ENSP00000262304.4:p.Pro3746Ala
ENST00000262304.8:c.11236C>G (PKD1)	ENSP00000262304.4:p.Pro3746Ala
ENST00000423118.5:c.11233C>G (PKD1)	ENSP00000399501.1:p.Pro3745Ala
ENST00000485120.1:n.85C>G (PKD1)
ENST00000487932.5:c.5798C>G (PKD1)	ENSP00000457132.1:n.5798C>G
ENST00000562425.1:c.349C>G (PKD1)
ENST00000567355.1:n.399C>G (PKD1)
NM_000296.3:c.11233C>G (PKD1)	NP_000287.3:p.Pro3745Ala
NM_001009944.2:c.11236C>G (PKD1)	NP_001009944.2:p.Pro3746Ala
XM_005255370.2:c.8191C>G (PKD1)	XP_005255427.1:p.Pro2731Ala
XM_011522525.1:c.11314C>G (PKD1)	XP_011520827.1:p.Pro3772Ala
XM_011522526.1:c.11311C>G (PKD1)	XP_011520828.1:p.Pro3771Ala
XM_011522527.1:c.11296C>G (PKD1)	XP_011520829.1:p.Pro3766Ala
XM_011522528.1:c.11290C>G (PKD1)	XP_011520830.1:p.Pro3764Ala
XM_011522529.1:c.11287C>G (PKD1)	XP_011520831.1:p.Pro3763Ala
XM_011522530.1:c.11260C>G (PKD1)	XP_011520832.1:p.Pro3754Ala
XM_011522531.1:c.11242C>G (PKD1)	XP_011520833.1:p.Pro3748Ala
XM_011522532.1:c.11188C>G (PKD1)	XP_011520834.1:p.Pro3730Ala
XM_011522533.1:c.11107C>G (PKD1)	XP_011520835.1:p.Pro3703Ala
XM_011522534.1:c.11050C>G (PKD1)	XP_011520836.1:p.Pro3684Ala
XM_011522535.1:c.9136C>G (PKD1)	XP_011520837.1:p.Pro3046Ala
XM_011522537.1:c.8314C>G (PKD1)	XP_011520839.1:p.Pro2772Ala
XR_932867.1:n.11329C>G (PKD1)
XR_932868.1:n.11110-325C>G (PKD1)
XR_932869.1:n.11110-325C>G (PKD1)
XR_932870.1:n.11189C>G (PKD1)
XR_933000.1:n.90-376G>C (PKD1-AS1)
XR_933001.1:n.180-376G>C (PKD1-AS1)
XR_933002.1:n.89-376G>C (PKD1-AS1)
XR_933003.1:n.89-376G>C (PKD1-AS1)
NR_135175.1:n.180-376G>C (PKD1-AS1)
XM_005255370.3:c.8191C>G (PKD1)	XP_005255427.1:p.Pro2731Ala
XM_011522528.3:c.11290C>G (PKD1)	XP_011520830.1:p.Pro3764Ala
XM_011522529.2:c.11287C>G (PKD1)	XP_011520831.1:p.Pro3763Ala
XM_011522537.2:c.8314C>G (PKD1)	XP_011520839.1:p.Pro2772Ala
XM_024450298.1:c.11356C>G (PKD1)	XP_024306066.1:p.Pro3786Ala
XM_024450299.1:c.11284C>G (PKD1)	XP_024306067.1:p.Pro3762Ala
XM_024450300.1:c.11146C>G (PKD1)	XP_024306068.1:p.Pro3716Ala
XM_024450301.1:c.9232C>G (PKD1)	XP_024306069.1:p.Pro3078Ala
NM_000296.4:c.11233C>G (PKD1)	NP_000287.4:p.Pro3745Ala
NM_001009944.3:c.11236C>G (PKD1) MANE Select	NP_001009944.3:p.Pro3746Ala