Canonical Allele Identifier: CA394382888

Gene: PKD1

Linked Data

• gnomAD v4: 16-2111623-C-T
• MyVariant Identifiers: chr16:g.2161624C>T (hg19) ; chr16:g.2111623C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111623C>T , CM000678.2:g.2111623C>T	GRCh38
NC_000016.9:g.2161624C>T , CM000678.1:g.2161624C>T	GRCh37
NC_000016.8:g.2101625C>T	NCBI36
NG_008617.1:g.29276G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3544G>A MANE Select	ENSP00000262304.4:p.Ala1182Thr
ENST00000262304.8:c.3544G>A	ENSP00000262304.4:p.Ala1182Thr
ENST00000415938.7:n.310+717G>A
ENST00000423118.5:c.3544G>A	ENSP00000399501.1:p.Ala1182Thr
ENST00000468674.5:n.430+717G>A
ENST00000469241.2:n.494G>A
ENST00000483024.1:c.233+193G>A
ENST00000483731.5:n.790+717G>A
ENST00000488185.2:c.473-3265G>A
ENST00000565639.6:n.773+717G>A
ENST00000568591.5:c.2226+717G>A	ENSP00000457162.1:n.2226+717G>A
ENST00000569983.5:n.421+717G>A
NM_000296.3:c.3544G>A	NP_000287.3:p.Ala1182Thr
NM_001009944.2:c.3544G>A	NP_001009944.2:p.Ala1182Thr
XM_005255370.2:c.499G>A	XP_005255427.1:p.Ala167Thr
XM_011522525.1:c.3622G>A	XP_011520827.1:p.Ala1208Thr
XM_011522526.1:c.3622G>A	XP_011520828.1:p.Ala1208Thr
XM_011522527.1:c.3622G>A	XP_011520829.1:p.Ala1208Thr
XM_011522528.1:c.3598G>A	XP_011520830.1:p.Ala1200Thr
XM_011522529.1:c.3598G>A	XP_011520831.1:p.Ala1200Thr
XM_011522530.1:c.3568G>A	XP_011520832.1:p.Ala1190Thr
XM_011522531.1:c.3550G>A	XP_011520833.1:p.Ala1184Thr
XM_011522532.1:c.3496G>A	XP_011520834.1:p.Ala1166Thr
XM_011522533.1:c.3415G>A	XP_011520835.1:p.Ala1139Thr
XM_011522534.1:c.3358G>A	XP_011520836.1:p.Ala1120Thr
XM_011522535.1:c.1444G>A	XP_011520837.1:p.Ala482Thr
XM_011522536.1:c.3622G>A	XP_011520838.1:p.Ala1208Thr
XM_011522537.1:c.622G>A	XP_011520839.1:p.Ala208Thr
XR_932867.1:n.3637G>A
XR_932868.1:n.3637G>A
XR_932869.1:n.3637G>A
XR_932870.1:n.3637G>A
XM_005255370.3:c.499G>A	XP_005255427.1:p.Ala167Thr
XM_011522528.3:c.3598G>A	XP_011520830.1:p.Ala1200Thr
XM_011522529.2:c.3598G>A	XP_011520831.1:p.Ala1200Thr
XM_011522537.2:c.622G>A	XP_011520839.1:p.Ala208Thr
XM_024450298.1:c.3664G>A	XP_024306066.1:p.Ala1222Thr
XM_024450299.1:c.3592G>A	XP_024306067.1:p.Ala1198Thr
XM_024450300.1:c.3454G>A	XP_024306068.1:p.Ala1152Thr
XM_024450301.1:c.1540G>A	XP_024306069.1:p.Ala514Thr
NM_000296.4:c.3544G>A	NP_000287.4:p.Ala1182Thr
NM_001009944.3:c.3544G>A MANE Select	NP_001009944.3:p.Ala1182Thr