Canonical Allele Identifier: CA394382857

Gene: PKD1

Linked Data

• gnomAD v4: 16-2111606-G-T
• MyVariant Identifiers: chr16:g.2161607G>T (hg19) ; chr16:g.2111606G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111606G>T , CM000678.2:g.2111606G>T	GRCh38
NC_000016.9:g.2161607G>T , CM000678.1:g.2161607G>T	GRCh37
NC_000016.8:g.2101608G>T	NCBI36
NG_008617.1:g.29293C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3561C>A MANE Select	ENSP00000262304.4:p.Tyr1187Ter
ENST00000262304.8:c.3561C>A	ENSP00000262304.4:p.Tyr1187Ter
ENST00000415938.7:n.310+734C>A
ENST00000423118.5:c.3561C>A	ENSP00000399501.1:p.Tyr1187Ter
ENST00000468674.5:n.430+734C>A
ENST00000469241.2:n.511C>A
ENST00000483024.1:c.233+210C>A
ENST00000483731.5:n.790+734C>A
ENST00000488185.2:c.473-3248C>A
ENST00000565639.6:n.773+734C>A
ENST00000568591.5:c.2226+734C>A	ENSP00000457162.1:n.2226+734C>A
ENST00000569983.5:n.421+734C>A
NM_000296.3:c.3561C>A	NP_000287.3:p.Tyr1187Ter
NM_001009944.2:c.3561C>A	NP_001009944.2:p.Tyr1187Ter
XM_005255370.2:c.516C>A	XP_005255427.1:p.Tyr172Ter
XM_011522525.1:c.3639C>A	XP_011520827.1:p.Tyr1213Ter
XM_011522526.1:c.3639C>A	XP_011520828.1:p.Tyr1213Ter
XM_011522527.1:c.3639C>A	XP_011520829.1:p.Tyr1213Ter
XM_011522528.1:c.3615C>A	XP_011520830.1:p.Tyr1205Ter
XM_011522529.1:c.3615C>A	XP_011520831.1:p.Tyr1205Ter
XM_011522530.1:c.3585C>A	XP_011520832.1:p.Tyr1195Ter
XM_011522531.1:c.3567C>A	XP_011520833.1:p.Tyr1189Ter
XM_011522532.1:c.3513C>A	XP_011520834.1:p.Tyr1171Ter
XM_011522533.1:c.3432C>A	XP_011520835.1:p.Tyr1144Ter
XM_011522534.1:c.3375C>A	XP_011520836.1:p.Tyr1125Ter
XM_011522535.1:c.1461C>A	XP_011520837.1:p.Tyr487Ter
XM_011522536.1:c.3639C>A	XP_011520838.1:p.Tyr1213Ter
XM_011522537.1:c.639C>A	XP_011520839.1:p.Tyr213Ter
XR_932867.1:n.3654C>A
XR_932868.1:n.3654C>A
XR_932869.1:n.3654C>A
XR_932870.1:n.3654C>A
XM_005255370.3:c.516C>A	XP_005255427.1:p.Tyr172Ter
XM_011522528.3:c.3615C>A	XP_011520830.1:p.Tyr1205Ter
XM_011522529.2:c.3615C>A	XP_011520831.1:p.Tyr1205Ter
XM_011522537.2:c.639C>A	XP_011520839.1:p.Tyr213Ter
XM_024450298.1:c.3681C>A	XP_024306066.1:p.Tyr1227Ter
XM_024450299.1:c.3609C>A	XP_024306067.1:p.Tyr1203Ter
XM_024450300.1:c.3471C>A	XP_024306068.1:p.Tyr1157Ter
XM_024450301.1:c.1557C>A	XP_024306069.1:p.Tyr519Ter
NM_000296.4:c.3561C>A	NP_000287.4:p.Tyr1187Ter
NM_001009944.3:c.3561C>A MANE Select	NP_001009944.3:p.Tyr1187Ter