Canonical Allele Identifier: CA394370268

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156572C>A (hg19) ; chr16:g.2106571C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106571C>A , CM000678.2:g.2106571C>A	GRCh38
NC_000016.9:g.2156572C>A , CM000678.1:g.2156572C>A	GRCh37
NC_000016.8:g.2096573C>A	NCBI36
NG_008617.1:g.34328G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7316G>T MANE Select	ENSP00000262304.4:p.Arg2439Leu
ENST00000262304.8:c.7316G>T	ENSP00000262304.4:p.Arg2439Leu
ENST00000415938.7:n.561G>T
ENST00000423118.5:c.7316G>T	ENSP00000399501.1:p.Arg2439Leu
ENST00000483558.5:n.375G>T
ENST00000483731.5:n.1041G>T
ENST00000486339.6:n.1062G>T
ENST00000487932.5:c.2003G>T	ENSP00000457132.1:p.Arg668Leu
ENST00000496574.6:n.1319G>T
ENST00000565639.6:n.1024G>T
ENST00000568591.5:c.2477G>T	ENSP00000457162.1:n.2477G>T
ENST00000569983.5:n.672G>T
NM_000296.3:c.7316G>T	NP_000287.3:p.Arg2439Leu
NM_001009944.2:c.7316G>T	NP_001009944.2:p.Arg2439Leu
XM_005255370.2:c.4271G>T	XP_005255427.1:p.Arg1424Leu
XM_011522525.1:c.7394G>T	XP_011520827.1:p.Arg2465Leu
XM_011522526.1:c.7394G>T	XP_011520828.1:p.Arg2465Leu
XM_011522527.1:c.7394G>T	XP_011520829.1:p.Arg2465Leu
XM_011522528.1:c.7370G>T	XP_011520830.1:p.Arg2457Leu
XM_011522529.1:c.7370G>T	XP_011520831.1:p.Arg2457Leu
XM_011522530.1:c.7340G>T	XP_011520832.1:p.Arg2447Leu
XM_011522531.1:c.7322G>T	XP_011520833.1:p.Arg2441Leu
XM_011522532.1:c.7268G>T	XP_011520834.1:p.Arg2423Leu
XM_011522533.1:c.7187G>T	XP_011520835.1:p.Arg2396Leu
XM_011522534.1:c.7130G>T	XP_011520836.1:p.Arg2377Leu
XM_011522535.1:c.5216G>T	XP_011520837.1:p.Arg1739Leu
XM_011522536.1:c.7394G>T	XP_011520838.1:p.Arg2465Leu
XM_011522537.1:c.4394G>T	XP_011520839.1:p.Arg1465Leu
XR_932867.1:n.7409G>T
XR_932868.1:n.7409G>T
XR_932869.1:n.7409G>T
XR_932870.1:n.7409G>T
XM_005255370.3:c.4271G>T	XP_005255427.1:p.Arg1424Leu
XM_011522528.3:c.7370G>T	XP_011520830.1:p.Arg2457Leu
XM_011522529.2:c.7370G>T	XP_011520831.1:p.Arg2457Leu
XM_011522537.2:c.4394G>T	XP_011520839.1:p.Arg1465Leu
XM_024450298.1:c.7436G>T	XP_024306066.1:p.Arg2479Leu
XM_024450299.1:c.7364G>T	XP_024306067.1:p.Arg2455Leu
XM_024450300.1:c.7226G>T	XP_024306068.1:p.Arg2409Leu
XM_024450301.1:c.5312G>T	XP_024306069.1:p.Arg1771Leu
NM_000296.4:c.7316G>T	NP_000287.4:p.Arg2439Leu
NM_001009944.3:c.7316G>T MANE Select	NP_001009944.3:p.Arg2439Leu