Canonical Allele Identifier: CA394371264

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106668-C-T
• MyVariant Identifiers: chr16:g.2156669C>T (hg19) ; chr16:g.2106668C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106668C>T , CM000678.2:g.2106668C>T	GRCh38
NC_000016.9:g.2156669C>T , CM000678.1:g.2156669C>T	GRCh37
NC_000016.8:g.2096670C>T	NCBI36
NG_008617.1:g.34231G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7219G>A MANE Select	ENSP00000262304.4:p.Ala2407Thr
ENST00000262304.8:c.7219G>A	ENSP00000262304.4:p.Ala2407Thr
ENST00000415938.7:n.464G>A
ENST00000423118.5:c.7219G>A	ENSP00000399501.1:p.Ala2407Thr
ENST00000483024.1:c.387G>A
ENST00000483558.5:n.278G>A
ENST00000483731.5:n.944G>A
ENST00000486339.6:n.965G>A
ENST00000487932.5:c.1906G>A	ENSP00000457132.1:p.Ala636Thr
ENST00000496574.6:n.1222G>A
ENST00000565639.6:n.927G>A
ENST00000568591.5:c.2380G>A	ENSP00000457162.1:n.2380G>A
ENST00000569983.5:n.575G>A
NM_000296.3:c.7219G>A	NP_000287.3:p.Ala2407Thr
NM_001009944.2:c.7219G>A	NP_001009944.2:p.Ala2407Thr
XM_005255370.2:c.4174G>A	XP_005255427.1:p.Ala1392Thr
XM_011522525.1:c.7297G>A	XP_011520827.1:p.Ala2433Thr
XM_011522526.1:c.7297G>A	XP_011520828.1:p.Ala2433Thr
XM_011522527.1:c.7297G>A	XP_011520829.1:p.Ala2433Thr
XM_011522528.1:c.7273G>A	XP_011520830.1:p.Ala2425Thr
XM_011522529.1:c.7273G>A	XP_011520831.1:p.Ala2425Thr
XM_011522530.1:c.7243G>A	XP_011520832.1:p.Ala2415Thr
XM_011522531.1:c.7225G>A	XP_011520833.1:p.Ala2409Thr
XM_011522532.1:c.7171G>A	XP_011520834.1:p.Ala2391Thr
XM_011522533.1:c.7090G>A	XP_011520835.1:p.Ala2364Thr
XM_011522534.1:c.7033G>A	XP_011520836.1:p.Ala2345Thr
XM_011522535.1:c.5119G>A	XP_011520837.1:p.Ala1707Thr
XM_011522536.1:c.7297G>A	XP_011520838.1:p.Ala2433Thr
XM_011522537.1:c.4297G>A	XP_011520839.1:p.Ala1433Thr
XR_932867.1:n.7312G>A
XR_932868.1:n.7312G>A
XR_932869.1:n.7312G>A
XR_932870.1:n.7312G>A
XM_005255370.3:c.4174G>A	XP_005255427.1:p.Ala1392Thr
XM_011522528.3:c.7273G>A	XP_011520830.1:p.Ala2425Thr
XM_011522529.2:c.7273G>A	XP_011520831.1:p.Ala2425Thr
XM_011522537.2:c.4297G>A	XP_011520839.1:p.Ala1433Thr
XM_024450298.1:c.7339G>A	XP_024306066.1:p.Ala2447Thr
XM_024450299.1:c.7267G>A	XP_024306067.1:p.Ala2423Thr
XM_024450300.1:c.7129G>A	XP_024306068.1:p.Ala2377Thr
XM_024450301.1:c.5215G>A	XP_024306069.1:p.Ala1739Thr
NM_000296.4:c.7219G>A	NP_000287.4:p.Ala2407Thr
NM_001009944.3:c.7219G>A MANE Select	NP_001009944.3:p.Ala2407Thr