Canonical Allele Identifier: CA394383077

Gene: PKD1

Linked Data

• gnomAD v4: 16-2111718-G-C
• MyVariant Identifiers: chr16:g.2161719G>C (hg19) ; chr16:g.2111718G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111718G>C , CM000678.2:g.2111718G>C	GRCh38
NC_000016.9:g.2161719G>C , CM000678.1:g.2161719G>C	GRCh37
NC_000016.8:g.2101720G>C	NCBI36
NG_008617.1:g.29181C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3449C>G MANE Select	ENSP00000262304.4:p.Pro1150Arg
ENST00000262304.8:c.3449C>G	ENSP00000262304.4:p.Pro1150Arg
ENST00000415938.7:n.310+622C>G
ENST00000423118.5:c.3449C>G	ENSP00000399501.1:p.Pro1150Arg
ENST00000468674.5:n.430+622C>G
ENST00000469241.2:n.399C>G
ENST00000483024.1:c.233+98C>G
ENST00000483731.5:n.790+622C>G
ENST00000488185.2:c.473-3360C>G
ENST00000565639.6:n.773+622C>G
ENST00000568591.5:c.2226+622C>G	ENSP00000457162.1:n.2226+622C>G
ENST00000569983.5:n.421+622C>G
NM_000296.3:c.3449C>G	NP_000287.3:p.Pro1150Arg
NM_001009944.2:c.3449C>G	NP_001009944.2:p.Pro1150Arg
XM_005255370.2:c.404C>G	XP_005255427.1:p.Pro135Arg
XM_011522525.1:c.3527C>G	XP_011520827.1:p.Pro1176Arg
XM_011522526.1:c.3527C>G	XP_011520828.1:p.Pro1176Arg
XM_011522527.1:c.3527C>G	XP_011520829.1:p.Pro1176Arg
XM_011522528.1:c.3503C>G	XP_011520830.1:p.Pro1168Arg
XM_011522529.1:c.3503C>G	XP_011520831.1:p.Pro1168Arg
XM_011522530.1:c.3473C>G	XP_011520832.1:p.Pro1158Arg
XM_011522531.1:c.3455C>G	XP_011520833.1:p.Pro1152Arg
XM_011522532.1:c.3401C>G	XP_011520834.1:p.Pro1134Arg
XM_011522533.1:c.3320C>G	XP_011520835.1:p.Pro1107Arg
XM_011522534.1:c.3263C>G	XP_011520836.1:p.Pro1088Arg
XM_011522535.1:c.1349C>G	XP_011520837.1:p.Pro450Arg
XM_011522536.1:c.3527C>G	XP_011520838.1:p.Pro1176Arg
XM_011522537.1:c.527C>G	XP_011520839.1:p.Pro176Arg
XR_932867.1:n.3542C>G
XR_932868.1:n.3542C>G
XR_932869.1:n.3542C>G
XR_932870.1:n.3542C>G
XM_005255370.3:c.404C>G	XP_005255427.1:p.Pro135Arg
XM_011522528.3:c.3503C>G	XP_011520830.1:p.Pro1168Arg
XM_011522529.2:c.3503C>G	XP_011520831.1:p.Pro1168Arg
XM_011522537.2:c.527C>G	XP_011520839.1:p.Pro176Arg
XM_024450298.1:c.3569C>G	XP_024306066.1:p.Pro1190Arg
XM_024450299.1:c.3497C>G	XP_024306067.1:p.Pro1166Arg
XM_024450300.1:c.3359C>G	XP_024306068.1:p.Pro1120Arg
XM_024450301.1:c.1445C>G	XP_024306069.1:p.Pro482Arg
NM_000296.4:c.3449C>G	NP_000287.4:p.Pro1150Arg
NM_001009944.3:c.3449C>G MANE Select	NP_001009944.3:p.Pro1150Arg