Canonical Allele Identifier: CA493046783

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156595C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106594C>G , CM000678.2:g.2106594C>G	GRCh38
NC_000016.9:g.2156595C>G , CM000678.1:g.2156595C>G	GRCh37
NC_000016.8:g.2096596C>G	NCBI36
NG_008617.1:g.34305G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7293G>C MANE Select	ENSP00000262304.4:p.Leu2431=
ENST00000262304.8:c.7293G>C	ENSP00000262304.4:p.Leu2431=
ENST00000415938.7:n.538G>C
ENST00000423118.5:c.7293G>C	ENSP00000399501.1:p.Leu2431=
ENST00000483024.1:c.461G>C
ENST00000483558.5:n.352G>C
ENST00000483731.5:n.1018G>C
ENST00000486339.6:n.1039G>C
ENST00000487932.5:c.1980G>C	ENSP00000457132.1:p.Leu660=
ENST00000496574.6:n.1296G>C
ENST00000565639.6:n.1001G>C
ENST00000568591.5:c.2454G>C	ENSP00000457162.1:n.2454G>C
ENST00000569983.5:n.649G>C
NM_000296.3:c.7293G>C	NP_000287.3:p.Leu2431=
NM_001009944.2:c.7293G>C	NP_001009944.2:p.Leu2431=
XM_005255370.2:c.4248G>C	XP_005255427.1:p.Leu1416=
XM_011522525.1:c.7371G>C	XP_011520827.1:p.Leu2457=
XM_011522526.1:c.7371G>C	XP_011520828.1:p.Leu2457=
XM_011522527.1:c.7371G>C	XP_011520829.1:p.Leu2457=
XM_011522528.1:c.7347G>C	XP_011520830.1:p.Leu2449=
XM_011522529.1:c.7347G>C	XP_011520831.1:p.Leu2449=
XM_011522530.1:c.7317G>C	XP_011520832.1:p.Leu2439=
XM_011522531.1:c.7299G>C	XP_011520833.1:p.Leu2433=
XM_011522532.1:c.7245G>C	XP_011520834.1:p.Leu2415=
XM_011522533.1:c.7164G>C	XP_011520835.1:p.Leu2388=
XM_011522534.1:c.7107G>C	XP_011520836.1:p.Leu2369=
XM_011522535.1:c.5193G>C	XP_011520837.1:p.Leu1731=
XM_011522536.1:c.7371G>C	XP_011520838.1:p.Leu2457=
XM_011522537.1:c.4371G>C	XP_011520839.1:p.Leu1457=
XR_932867.1:n.7386G>C
XR_932868.1:n.7386G>C
XR_932869.1:n.7386G>C
XR_932870.1:n.7386G>C
XM_005255370.3:c.4248G>C	XP_005255427.1:p.Leu1416=
XM_011522528.3:c.7347G>C	XP_011520830.1:p.Leu2449=
XM_011522529.2:c.7347G>C	XP_011520831.1:p.Leu2449=
XM_011522537.2:c.4371G>C	XP_011520839.1:p.Leu1457=
XM_024450298.1:c.7413G>C	XP_024306066.1:p.Leu2471=
XM_024450299.1:c.7341G>C	XP_024306067.1:p.Leu2447=
XM_024450300.1:c.7203G>C	XP_024306068.1:p.Leu2401=
XM_024450301.1:c.5289G>C	XP_024306069.1:p.Leu1763=
NM_000296.4:c.7293G>C	NP_000287.4:p.Leu2431=
NM_001009944.3:c.7293G>C MANE Select	NP_001009944.3:p.Leu2431=