Canonical Allele Identifier: CA394371278

Gene: PKD1 MIR6511B1

Linked Data

• ClinVar Variation Id: 1304619
• ClinVar RCV Id: RCV001764855
• dbSNP Id: rs2151775293
• MyVariant Identifiers: chr16:g.2156672C>G (hg19) ; chr16:g.2106671C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106671C>G , CM000678.2:g.2106671C>G	GRCh38
NC_000016.9:g.2156672C>G , CM000678.1:g.2156672C>G	GRCh37
NC_000016.8:g.2096673C>G	NCBI36
NG_008617.1:g.34228G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7216G>C (PKD1) MANE Select	ENSP00000262304.4:p.Ala2406Pro
ENST00000262304.8:c.7216G>C (PKD1)	ENSP00000262304.4:p.Ala2406Pro
ENST00000415938.7:n.461G>C (PKD1)
ENST00000423118.5:c.7216G>C (PKD1)	ENSP00000399501.1:p.Ala2406Pro
ENST00000483024.1:c.384G>C (PKD1)
ENST00000483558.5:n.275G>C (PKD1)
ENST00000483731.5:n.941G>C (PKD1)
ENST00000486339.6:n.962G>C (PKD1)
ENST00000487932.5:c.1903G>C (PKD1)	ENSP00000457132.1:p.Ala635Pro
ENST00000496574.6:n.1219G>C (PKD1)
ENST00000565639.6:n.924G>C (PKD1)
ENST00000568591.5:c.2377G>C (PKD1)	ENSP00000457162.1:n.2377G>C
ENST00000569983.5:n.572G>C (PKD1)
NM_000296.3:c.7216G>C (PKD1)	NP_000287.3:p.Ala2406Pro
NM_001009944.2:c.7216G>C (PKD1)	NP_001009944.2:p.Ala2406Pro
NR_106775.1:n.83G>C (MIR6511B1)
XM_005255370.2:c.4171G>C (PKD1)	XP_005255427.1:p.Ala1391Pro
XM_011522525.1:c.7294G>C (PKD1)	XP_011520827.1:p.Ala2432Pro
XM_011522526.1:c.7294G>C (PKD1)	XP_011520828.1:p.Ala2432Pro
XM_011522527.1:c.7294G>C (PKD1)	XP_011520829.1:p.Ala2432Pro
XM_011522528.1:c.7270G>C (PKD1)	XP_011520830.1:p.Ala2424Pro
XM_011522529.1:c.7270G>C (PKD1)	XP_011520831.1:p.Ala2424Pro
XM_011522530.1:c.7240G>C (PKD1)	XP_011520832.1:p.Ala2414Pro
XM_011522531.1:c.7222G>C (PKD1)	XP_011520833.1:p.Ala2408Pro
XM_011522532.1:c.7168G>C (PKD1)	XP_011520834.1:p.Ala2390Pro
XM_011522533.1:c.7087G>C (PKD1)	XP_011520835.1:p.Ala2363Pro
XM_011522534.1:c.7030G>C (PKD1)	XP_011520836.1:p.Ala2344Pro
XM_011522535.1:c.5116G>C (PKD1)	XP_011520837.1:p.Ala1706Pro
XM_011522536.1:c.7294G>C (PKD1)	XP_011520838.1:p.Ala2432Pro
XM_011522537.1:c.4294G>C (PKD1)	XP_011520839.1:p.Ala1432Pro
XR_932867.1:n.7309G>C (PKD1)
XR_932868.1:n.7309G>C (PKD1)
XR_932869.1:n.7309G>C (PKD1)
XR_932870.1:n.7309G>C (PKD1)
XM_005255370.3:c.4171G>C (PKD1)	XP_005255427.1:p.Ala1391Pro
XM_011522528.3:c.7270G>C (PKD1)	XP_011520830.1:p.Ala2424Pro
XM_011522529.2:c.7270G>C (PKD1)	XP_011520831.1:p.Ala2424Pro
XM_011522537.2:c.4294G>C (PKD1)	XP_011520839.1:p.Ala1432Pro
XM_024450298.1:c.7336G>C (PKD1)	XP_024306066.1:p.Ala2446Pro
XM_024450299.1:c.7264G>C (PKD1)	XP_024306067.1:p.Ala2422Pro
XM_024450300.1:c.7126G>C (PKD1)	XP_024306068.1:p.Ala2376Pro
XM_024450301.1:c.5212G>C (PKD1)	XP_024306069.1:p.Ala1738Pro
NM_000296.4:c.7216G>C (PKD1)	NP_000287.4:p.Ala2406Pro
NM_001009944.3:c.7216G>C (PKD1) MANE Select	NP_001009944.3:p.Ala2406Pro