Canonical Allele Identifier: CA394383051

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2161704C>G (hg19) ; chr16:g.2111703C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111703C>G , CM000678.2:g.2111703C>G	GRCh38
NC_000016.9:g.2161704C>G , CM000678.1:g.2161704C>G	GRCh37
NC_000016.8:g.2101705C>G	NCBI36
NG_008617.1:g.29196G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3464G>C MANE Select	ENSP00000262304.4:p.Gly1155Ala
ENST00000262304.8:c.3464G>C	ENSP00000262304.4:p.Gly1155Ala
ENST00000415938.7:n.310+637G>C
ENST00000423118.5:c.3464G>C	ENSP00000399501.1:p.Gly1155Ala
ENST00000468674.5:n.430+637G>C
ENST00000469241.2:n.414G>C
ENST00000483024.1:c.233+113G>C
ENST00000483731.5:n.790+637G>C
ENST00000488185.2:c.473-3345G>C
ENST00000565639.6:n.773+637G>C
ENST00000568591.5:c.2226+637G>C	ENSP00000457162.1:n.2226+637G>C
ENST00000569983.5:n.421+637G>C
NM_000296.3:c.3464G>C	NP_000287.3:p.Gly1155Ala
NM_001009944.2:c.3464G>C	NP_001009944.2:p.Gly1155Ala
XM_005255370.2:c.419G>C	XP_005255427.1:p.Gly140Ala
XM_011522525.1:c.3542G>C	XP_011520827.1:p.Gly1181Ala
XM_011522526.1:c.3542G>C	XP_011520828.1:p.Gly1181Ala
XM_011522527.1:c.3542G>C	XP_011520829.1:p.Gly1181Ala
XM_011522528.1:c.3518G>C	XP_011520830.1:p.Gly1173Ala
XM_011522529.1:c.3518G>C	XP_011520831.1:p.Gly1173Ala
XM_011522530.1:c.3488G>C	XP_011520832.1:p.Gly1163Ala
XM_011522531.1:c.3470G>C	XP_011520833.1:p.Gly1157Ala
XM_011522532.1:c.3416G>C	XP_011520834.1:p.Gly1139Ala
XM_011522533.1:c.3335G>C	XP_011520835.1:p.Gly1112Ala
XM_011522534.1:c.3278G>C	XP_011520836.1:p.Gly1093Ala
XM_011522535.1:c.1364G>C	XP_011520837.1:p.Gly455Ala
XM_011522536.1:c.3542G>C	XP_011520838.1:p.Gly1181Ala
XM_011522537.1:c.542G>C	XP_011520839.1:p.Gly181Ala
XR_932867.1:n.3557G>C
XR_932868.1:n.3557G>C
XR_932869.1:n.3557G>C
XR_932870.1:n.3557G>C
XM_005255370.3:c.419G>C	XP_005255427.1:p.Gly140Ala
XM_011522528.3:c.3518G>C	XP_011520830.1:p.Gly1173Ala
XM_011522529.2:c.3518G>C	XP_011520831.1:p.Gly1173Ala
XM_011522537.2:c.542G>C	XP_011520839.1:p.Gly181Ala
XM_024450298.1:c.3584G>C	XP_024306066.1:p.Gly1195Ala
XM_024450299.1:c.3512G>C	XP_024306067.1:p.Gly1171Ala
XM_024450300.1:c.3374G>C	XP_024306068.1:p.Gly1125Ala
XM_024450301.1:c.1460G>C	XP_024306069.1:p.Gly487Ala
NM_000296.4:c.3464G>C	NP_000287.4:p.Gly1155Ala
NM_001009944.3:c.3464G>C MANE Select	NP_001009944.3:p.Gly1155Ala