Canonical Allele Identifier: CA394383080

Gene: PKD1

Linked Data

• gnomAD v4: 16-2111720-G-T
• MyVariant Identifiers: chr16:g.2161721G>T (hg19) ; chr16:g.2111720G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111720G>T , CM000678.2:g.2111720G>T	GRCh38
NC_000016.9:g.2161721G>T , CM000678.1:g.2161721G>T	GRCh37
NC_000016.8:g.2101722G>T	NCBI36
NG_008617.1:g.29179C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3447C>A MANE Select	ENSP00000262304.4:p.His1149Gln
ENST00000262304.8:c.3447C>A	ENSP00000262304.4:p.His1149Gln
ENST00000415938.7:n.310+620C>A
ENST00000423118.5:c.3447C>A	ENSP00000399501.1:p.His1149Gln
ENST00000468674.5:n.430+620C>A
ENST00000469241.2:n.397C>A
ENST00000483024.1:c.233+96C>A
ENST00000483731.5:n.790+620C>A
ENST00000488185.2:c.473-3362C>A
ENST00000565639.6:n.773+620C>A
ENST00000568591.5:c.2226+620C>A	ENSP00000457162.1:n.2226+620C>A
ENST00000569983.5:n.421+620C>A
NM_000296.3:c.3447C>A	NP_000287.3:p.His1149Gln
NM_001009944.2:c.3447C>A	NP_001009944.2:p.His1149Gln
XM_005255370.2:c.402C>A	XP_005255427.1:p.His134Gln
XM_011522525.1:c.3525C>A	XP_011520827.1:p.His1175Gln
XM_011522526.1:c.3525C>A	XP_011520828.1:p.His1175Gln
XM_011522527.1:c.3525C>A	XP_011520829.1:p.His1175Gln
XM_011522528.1:c.3501C>A	XP_011520830.1:p.His1167Gln
XM_011522529.1:c.3501C>A	XP_011520831.1:p.His1167Gln
XM_011522530.1:c.3471C>A	XP_011520832.1:p.His1157Gln
XM_011522531.1:c.3453C>A	XP_011520833.1:p.His1151Gln
XM_011522532.1:c.3399C>A	XP_011520834.1:p.His1133Gln
XM_011522533.1:c.3318C>A	XP_011520835.1:p.His1106Gln
XM_011522534.1:c.3261C>A	XP_011520836.1:p.His1087Gln
XM_011522535.1:c.1347C>A	XP_011520837.1:p.His449Gln
XM_011522536.1:c.3525C>A	XP_011520838.1:p.His1175Gln
XM_011522537.1:c.525C>A	XP_011520839.1:p.His175Gln
XR_932867.1:n.3540C>A
XR_932868.1:n.3540C>A
XR_932869.1:n.3540C>A
XR_932870.1:n.3540C>A
XM_005255370.3:c.402C>A	XP_005255427.1:p.His134Gln
XM_011522528.3:c.3501C>A	XP_011520830.1:p.His1167Gln
XM_011522529.2:c.3501C>A	XP_011520831.1:p.His1167Gln
XM_011522537.2:c.525C>A	XP_011520839.1:p.His175Gln
XM_024450298.1:c.3567C>A	XP_024306066.1:p.His1189Gln
XM_024450299.1:c.3495C>A	XP_024306067.1:p.His1165Gln
XM_024450300.1:c.3357C>A	XP_024306068.1:p.His1119Gln
XM_024450301.1:c.1443C>A	XP_024306069.1:p.His481Gln
NM_000296.4:c.3447C>A	NP_000287.4:p.His1149Gln
NM_001009944.3:c.3447C>A MANE Select	NP_001009944.3:p.His1149Gln