Canonical Allele Identifier: CA394382750

Gene: PKD1

Linked Data

• gnomAD v4: 16-2111551-C-T
• MyVariant Identifiers: chr16:g.2161552C>T (hg19) ; chr16:g.2111551C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111551C>T , CM000678.2:g.2111551C>T	GRCh38
NC_000016.9:g.2161552C>T , CM000678.1:g.2161552C>T	GRCh37
NC_000016.8:g.2101553C>T	NCBI36
NG_008617.1:g.29348G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3616G>A MANE Select	ENSP00000262304.4:p.Val1206Met
ENST00000262304.8:c.3616G>A	ENSP00000262304.4:p.Val1206Met
ENST00000415938.7:n.310+789G>A
ENST00000423118.5:c.3616G>A	ENSP00000399501.1:p.Val1206Met
ENST00000468674.5:n.430+789G>A
ENST00000469241.2:n.566G>A
ENST00000483024.1:c.233+265G>A
ENST00000483731.5:n.790+789G>A
ENST00000488185.2:c.473-3193G>A
ENST00000565639.6:n.773+789G>A
ENST00000568591.5:c.2226+789G>A	ENSP00000457162.1:n.2226+789G>A
ENST00000569983.5:n.421+789G>A
NM_000296.3:c.3616G>A	NP_000287.3:p.Val1206Met
NM_001009944.2:c.3616G>A	NP_001009944.2:p.Val1206Met
XM_005255370.2:c.571G>A	XP_005255427.1:p.Val191Met
XM_011522525.1:c.3694G>A	XP_011520827.1:p.Val1232Met
XM_011522526.1:c.3694G>A	XP_011520828.1:p.Val1232Met
XM_011522527.1:c.3694G>A	XP_011520829.1:p.Val1232Met
XM_011522528.1:c.3670G>A	XP_011520830.1:p.Val1224Met
XM_011522529.1:c.3670G>A	XP_011520831.1:p.Val1224Met
XM_011522530.1:c.3640G>A	XP_011520832.1:p.Val1214Met
XM_011522531.1:c.3622G>A	XP_011520833.1:p.Val1208Met
XM_011522532.1:c.3568G>A	XP_011520834.1:p.Val1190Met
XM_011522533.1:c.3487G>A	XP_011520835.1:p.Val1163Met
XM_011522534.1:c.3430G>A	XP_011520836.1:p.Val1144Met
XM_011522535.1:c.1516G>A	XP_011520837.1:p.Val506Met
XM_011522536.1:c.3694G>A	XP_011520838.1:p.Val1232Met
XM_011522537.1:c.694G>A	XP_011520839.1:p.Val232Met
XR_932867.1:n.3709G>A
XR_932868.1:n.3709G>A
XR_932869.1:n.3709G>A
XR_932870.1:n.3709G>A
XM_005255370.3:c.571G>A	XP_005255427.1:p.Val191Met
XM_011522528.3:c.3670G>A	XP_011520830.1:p.Val1224Met
XM_011522529.2:c.3670G>A	XP_011520831.1:p.Val1224Met
XM_011522537.2:c.694G>A	XP_011520839.1:p.Val232Met
XM_024450298.1:c.3736G>A	XP_024306066.1:p.Val1246Met
XM_024450299.1:c.3664G>A	XP_024306067.1:p.Val1222Met
XM_024450300.1:c.3526G>A	XP_024306068.1:p.Val1176Met
XM_024450301.1:c.1612G>A	XP_024306069.1:p.Val538Met
NM_000296.4:c.3616G>A	NP_000287.4:p.Val1206Met
NM_001009944.3:c.3616G>A MANE Select	NP_001009944.3:p.Val1206Met