Canonical Allele Identifier: CA394382831

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2161593T>G (hg19) ; chr16:g.2111592T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111592T>G , CM000678.2:g.2111592T>G	GRCh38
NC_000016.9:g.2161593T>G , CM000678.1:g.2161593T>G	GRCh37
NC_000016.8:g.2101594T>G	NCBI36
NG_008617.1:g.29307A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3575A>C MANE Select	ENSP00000262304.4:p.Glu1192Ala
ENST00000262304.8:c.3575A>C	ENSP00000262304.4:p.Glu1192Ala
ENST00000415938.7:n.310+748A>C
ENST00000423118.5:c.3575A>C	ENSP00000399501.1:p.Glu1192Ala
ENST00000468674.5:n.430+748A>C
ENST00000469241.2:n.525A>C
ENST00000483024.1:c.233+224A>C
ENST00000483731.5:n.790+748A>C
ENST00000488185.2:c.473-3234A>C
ENST00000565639.6:n.773+748A>C
ENST00000568591.5:c.2226+748A>C	ENSP00000457162.1:n.2226+748A>C
ENST00000569983.5:n.421+748A>C
NM_000296.3:c.3575A>C	NP_000287.3:p.Glu1192Ala
NM_001009944.2:c.3575A>C	NP_001009944.2:p.Glu1192Ala
XM_005255370.2:c.530A>C	XP_005255427.1:p.Glu177Ala
XM_011522525.1:c.3653A>C	XP_011520827.1:p.Glu1218Ala
XM_011522526.1:c.3653A>C	XP_011520828.1:p.Glu1218Ala
XM_011522527.1:c.3653A>C	XP_011520829.1:p.Glu1218Ala
XM_011522528.1:c.3629A>C	XP_011520830.1:p.Glu1210Ala
XM_011522529.1:c.3629A>C	XP_011520831.1:p.Glu1210Ala
XM_011522530.1:c.3599A>C	XP_011520832.1:p.Glu1200Ala
XM_011522531.1:c.3581A>C	XP_011520833.1:p.Glu1194Ala
XM_011522532.1:c.3527A>C	XP_011520834.1:p.Glu1176Ala
XM_011522533.1:c.3446A>C	XP_011520835.1:p.Glu1149Ala
XM_011522534.1:c.3389A>C	XP_011520836.1:p.Glu1130Ala
XM_011522535.1:c.1475A>C	XP_011520837.1:p.Glu492Ala
XM_011522536.1:c.3653A>C	XP_011520838.1:p.Glu1218Ala
XM_011522537.1:c.653A>C	XP_011520839.1:p.Glu218Ala
XR_932867.1:n.3668A>C
XR_932868.1:n.3668A>C
XR_932869.1:n.3668A>C
XR_932870.1:n.3668A>C
XM_005255370.3:c.530A>C	XP_005255427.1:p.Glu177Ala
XM_011522528.3:c.3629A>C	XP_011520830.1:p.Glu1210Ala
XM_011522529.2:c.3629A>C	XP_011520831.1:p.Glu1210Ala
XM_011522537.2:c.653A>C	XP_011520839.1:p.Glu218Ala
XM_024450298.1:c.3695A>C	XP_024306066.1:p.Glu1232Ala
XM_024450299.1:c.3623A>C	XP_024306067.1:p.Glu1208Ala
XM_024450300.1:c.3485A>C	XP_024306068.1:p.Glu1162Ala
XM_024450301.1:c.1571A>C	XP_024306069.1:p.Glu524Ala
NM_000296.4:c.3575A>C	NP_000287.4:p.Glu1192Ala
NM_001009944.3:c.3575A>C MANE Select	NP_001009944.3:p.Glu1192Ala