Canonical Allele Identifier: CA394371274

Gene: PKD1 MIR6511B1

Linked Data

• dbSNP Id: rs773518201
• gnomAD v3: 16-2106670-G-T
• gnomAD v4: 16-2106670-G-T
• MyVariant Identifiers: chr16:g.2156671G>T (hg19) ; chr16:g.2106670G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106670G>T , CM000678.2:g.2106670G>T	GRCh38
NC_000016.9:g.2156671G>T , CM000678.1:g.2156671G>T	GRCh37
NC_000016.8:g.2096672G>T	NCBI36
NG_008617.1:g.34229C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7217C>A (PKD1) MANE Select	ENSP00000262304.4:p.Ala2406Asp
ENST00000262304.8:c.7217C>A (PKD1)	ENSP00000262304.4:p.Ala2406Asp
ENST00000415938.7:n.462C>A (PKD1)
ENST00000423118.5:c.7217C>A (PKD1)	ENSP00000399501.1:p.Ala2406Asp
ENST00000483024.1:c.385C>A (PKD1)
ENST00000483558.5:n.276C>A (PKD1)
ENST00000483731.5:n.942C>A (PKD1)
ENST00000486339.6:n.963C>A (PKD1)
ENST00000487932.5:c.1904C>A (PKD1)	ENSP00000457132.1:p.Ala635Asp
ENST00000496574.6:n.1220C>A (PKD1)
ENST00000565639.6:n.925C>A (PKD1)
ENST00000568591.5:c.2378C>A (PKD1)	ENSP00000457162.1:n.2378C>A
ENST00000569983.5:n.573C>A (PKD1)
NM_000296.3:c.7217C>A (PKD1)	NP_000287.3:p.Ala2406Asp
NM_001009944.2:c.7217C>A (PKD1)	NP_001009944.2:p.Ala2406Asp
NR_106775.1:n.84C>A (MIR6511B1)
XM_005255370.2:c.4172C>A (PKD1)	XP_005255427.1:p.Ala1391Asp
XM_011522525.1:c.7295C>A (PKD1)	XP_011520827.1:p.Ala2432Asp
XM_011522526.1:c.7295C>A (PKD1)	XP_011520828.1:p.Ala2432Asp
XM_011522527.1:c.7295C>A (PKD1)	XP_011520829.1:p.Ala2432Asp
XM_011522528.1:c.7271C>A (PKD1)	XP_011520830.1:p.Ala2424Asp
XM_011522529.1:c.7271C>A (PKD1)	XP_011520831.1:p.Ala2424Asp
XM_011522530.1:c.7241C>A (PKD1)	XP_011520832.1:p.Ala2414Asp
XM_011522531.1:c.7223C>A (PKD1)	XP_011520833.1:p.Ala2408Asp
XM_011522532.1:c.7169C>A (PKD1)	XP_011520834.1:p.Ala2390Asp
XM_011522533.1:c.7088C>A (PKD1)	XP_011520835.1:p.Ala2363Asp
XM_011522534.1:c.7031C>A (PKD1)	XP_011520836.1:p.Ala2344Asp
XM_011522535.1:c.5117C>A (PKD1)	XP_011520837.1:p.Ala1706Asp
XM_011522536.1:c.7295C>A (PKD1)	XP_011520838.1:p.Ala2432Asp
XM_011522537.1:c.4295C>A (PKD1)	XP_011520839.1:p.Ala1432Asp
XR_932867.1:n.7310C>A (PKD1)
XR_932868.1:n.7310C>A (PKD1)
XR_932869.1:n.7310C>A (PKD1)
XR_932870.1:n.7310C>A (PKD1)
XM_005255370.3:c.4172C>A (PKD1)	XP_005255427.1:p.Ala1391Asp
XM_011522528.3:c.7271C>A (PKD1)	XP_011520830.1:p.Ala2424Asp
XM_011522529.2:c.7271C>A (PKD1)	XP_011520831.1:p.Ala2424Asp
XM_011522537.2:c.4295C>A (PKD1)	XP_011520839.1:p.Ala1432Asp
XM_024450298.1:c.7337C>A (PKD1)	XP_024306066.1:p.Ala2446Asp
XM_024450299.1:c.7265C>A (PKD1)	XP_024306067.1:p.Ala2422Asp
XM_024450300.1:c.7127C>A (PKD1)	XP_024306068.1:p.Ala2376Asp
XM_024450301.1:c.5213C>A (PKD1)	XP_024306069.1:p.Ala1738Asp
NM_000296.4:c.7217C>A (PKD1)	NP_000287.4:p.Ala2406Asp
NM_001009944.3:c.7217C>A (PKD1) MANE Select	NP_001009944.3:p.Ala2406Asp