Canonical Allele Identifier: CA394370032

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156528A>G (hg19) ; chr16:g.2106527A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106527A>G , CM000678.2:g.2106527A>G	GRCh38
NC_000016.9:g.2156528A>G , CM000678.1:g.2156528A>G	GRCh37
NC_000016.8:g.2096529A>G	NCBI36
NG_008617.1:g.34372T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7360T>C MANE Select	ENSP00000262304.4:p.Ser2454Pro
ENST00000262304.8:c.7360T>C	ENSP00000262304.4:p.Ser2454Pro
ENST00000415938.7:n.605T>C
ENST00000423118.5:c.7360T>C	ENSP00000399501.1:p.Ser2454Pro
ENST00000483558.5:n.419T>C
ENST00000483731.5:n.1085T>C
ENST00000486339.6:n.1106T>C
ENST00000487932.5:c.2047T>C	ENSP00000457132.1:p.Ser683Pro
ENST00000496574.6:n.1363T>C
ENST00000565639.6:n.1068T>C
ENST00000568591.5:c.2521T>C	ENSP00000457162.1:n.2521T>C
ENST00000569983.5:n.716T>C
NM_000296.3:c.7360T>C	NP_000287.3:p.Ser2454Pro
NM_001009944.2:c.7360T>C	NP_001009944.2:p.Ser2454Pro
XM_005255370.2:c.4315T>C	XP_005255427.1:p.Ser1439Pro
XM_011522525.1:c.7438T>C	XP_011520827.1:p.Ser2480Pro
XM_011522526.1:c.7438T>C	XP_011520828.1:p.Ser2480Pro
XM_011522527.1:c.7438T>C	XP_011520829.1:p.Ser2480Pro
XM_011522528.1:c.7414T>C	XP_011520830.1:p.Ser2472Pro
XM_011522529.1:c.7414T>C	XP_011520831.1:p.Ser2472Pro
XM_011522530.1:c.7384T>C	XP_011520832.1:p.Ser2462Pro
XM_011522531.1:c.7366T>C	XP_011520833.1:p.Ser2456Pro
XM_011522532.1:c.7312T>C	XP_011520834.1:p.Ser2438Pro
XM_011522533.1:c.7231T>C	XP_011520835.1:p.Ser2411Pro
XM_011522534.1:c.7174T>C	XP_011520836.1:p.Ser2392Pro
XM_011522535.1:c.5260T>C	XP_011520837.1:p.Ser1754Pro
XM_011522536.1:c.7438T>C	XP_011520838.1:p.Ser2480Pro
XM_011522537.1:c.4438T>C	XP_011520839.1:p.Ser1480Pro
XR_932867.1:n.7453T>C
XR_932868.1:n.7453T>C
XR_932869.1:n.7453T>C
XR_932870.1:n.7453T>C
XM_005255370.3:c.4315T>C	XP_005255427.1:p.Ser1439Pro
XM_011522528.3:c.7414T>C	XP_011520830.1:p.Ser2472Pro
XM_011522529.2:c.7414T>C	XP_011520831.1:p.Ser2472Pro
XM_011522537.2:c.4438T>C	XP_011520839.1:p.Ser1480Pro
XM_024450298.1:c.7480T>C	XP_024306066.1:p.Ser2494Pro
XM_024450299.1:c.7408T>C	XP_024306067.1:p.Ser2470Pro
XM_024450300.1:c.7270T>C	XP_024306068.1:p.Ser2424Pro
XM_024450301.1:c.5356T>C	XP_024306069.1:p.Ser1786Pro
NM_000296.4:c.7360T>C	NP_000287.4:p.Ser2454Pro
NM_001009944.3:c.7360T>C MANE Select	NP_001009944.3:p.Ser2454Pro