Canonical Allele Identifier: CA394382945

Gene: PKD1

Linked Data

• gnomAD v4: 16-2111650-T-C
• MyVariant Identifiers: chr16:g.2161651T>C (hg19) ; chr16:g.2111650T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111650T>C , CM000678.2:g.2111650T>C	GRCh38
NC_000016.9:g.2161651T>C , CM000678.1:g.2161651T>C	GRCh37
NC_000016.8:g.2101652T>C	NCBI36
NG_008617.1:g.29249A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3517A>G MANE Select	ENSP00000262304.4:p.Ser1173Gly
ENST00000262304.8:c.3517A>G	ENSP00000262304.4:p.Ser1173Gly
ENST00000415938.7:n.310+690A>G
ENST00000423118.5:c.3517A>G	ENSP00000399501.1:p.Ser1173Gly
ENST00000468674.5:n.430+690A>G
ENST00000469241.2:n.467A>G
ENST00000483024.1:c.233+166A>G
ENST00000483731.5:n.790+690A>G
ENST00000488185.2:c.473-3292A>G
ENST00000565639.6:n.773+690A>G
ENST00000568591.5:c.2226+690A>G	ENSP00000457162.1:n.2226+690A>G
ENST00000569983.5:n.421+690A>G
NM_000296.3:c.3517A>G	NP_000287.3:p.Ser1173Gly
NM_001009944.2:c.3517A>G	NP_001009944.2:p.Ser1173Gly
XM_005255370.2:c.472A>G	XP_005255427.1:p.Ser158Gly
XM_011522525.1:c.3595A>G	XP_011520827.1:p.Ser1199Gly
XM_011522526.1:c.3595A>G	XP_011520828.1:p.Ser1199Gly
XM_011522527.1:c.3595A>G	XP_011520829.1:p.Ser1199Gly
XM_011522528.1:c.3571A>G	XP_011520830.1:p.Ser1191Gly
XM_011522529.1:c.3571A>G	XP_011520831.1:p.Ser1191Gly
XM_011522530.1:c.3541A>G	XP_011520832.1:p.Ser1181Gly
XM_011522531.1:c.3523A>G	XP_011520833.1:p.Ser1175Gly
XM_011522532.1:c.3469A>G	XP_011520834.1:p.Ser1157Gly
XM_011522533.1:c.3388A>G	XP_011520835.1:p.Ser1130Gly
XM_011522534.1:c.3331A>G	XP_011520836.1:p.Ser1111Gly
XM_011522535.1:c.1417A>G	XP_011520837.1:p.Ser473Gly
XM_011522536.1:c.3595A>G	XP_011520838.1:p.Ser1199Gly
XM_011522537.1:c.595A>G	XP_011520839.1:p.Ser199Gly
XR_932867.1:n.3610A>G
XR_932868.1:n.3610A>G
XR_932869.1:n.3610A>G
XR_932870.1:n.3610A>G
XM_005255370.3:c.472A>G	XP_005255427.1:p.Ser158Gly
XM_011522528.3:c.3571A>G	XP_011520830.1:p.Ser1191Gly
XM_011522529.2:c.3571A>G	XP_011520831.1:p.Ser1191Gly
XM_011522537.2:c.595A>G	XP_011520839.1:p.Ser199Gly
XM_024450298.1:c.3637A>G	XP_024306066.1:p.Ser1213Gly
XM_024450299.1:c.3565A>G	XP_024306067.1:p.Ser1189Gly
XM_024450300.1:c.3427A>G	XP_024306068.1:p.Ser1143Gly
XM_024450301.1:c.1513A>G	XP_024306069.1:p.Ser505Gly
NM_000296.4:c.3517A>G	NP_000287.4:p.Ser1173Gly
NM_001009944.3:c.3517A>G MANE Select	NP_001009944.3:p.Ser1173Gly