Canonical Allele Identifier: CA394382853

Gene: PKD1

Linked Data

• gnomAD v4: 16-2111605-G-A
• MyVariant Identifiers: chr16:g.2161606G>A (hg19) ; chr16:g.2111605G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111605G>A , CM000678.2:g.2111605G>A	GRCh38
NC_000016.9:g.2161606G>A , CM000678.1:g.2161606G>A	GRCh37
NC_000016.8:g.2101607G>A	NCBI36
NG_008617.1:g.29294C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3562C>T MANE Select	ENSP00000262304.4:p.His1188Tyr
ENST00000262304.8:c.3562C>T	ENSP00000262304.4:p.His1188Tyr
ENST00000415938.7:n.310+735C>T
ENST00000423118.5:c.3562C>T	ENSP00000399501.1:p.His1188Tyr
ENST00000468674.5:n.430+735C>T
ENST00000469241.2:n.512C>T
ENST00000483024.1:c.233+211C>T
ENST00000483731.5:n.790+735C>T
ENST00000488185.2:c.473-3247C>T
ENST00000565639.6:n.773+735C>T
ENST00000568591.5:c.2226+735C>T	ENSP00000457162.1:n.2226+735C>T
ENST00000569983.5:n.421+735C>T
NM_000296.3:c.3562C>T	NP_000287.3:p.His1188Tyr
NM_001009944.2:c.3562C>T	NP_001009944.2:p.His1188Tyr
XM_005255370.2:c.517C>T	XP_005255427.1:p.His173Tyr
XM_011522525.1:c.3640C>T	XP_011520827.1:p.His1214Tyr
XM_011522526.1:c.3640C>T	XP_011520828.1:p.His1214Tyr
XM_011522527.1:c.3640C>T	XP_011520829.1:p.His1214Tyr
XM_011522528.1:c.3616C>T	XP_011520830.1:p.His1206Tyr
XM_011522529.1:c.3616C>T	XP_011520831.1:p.His1206Tyr
XM_011522530.1:c.3586C>T	XP_011520832.1:p.His1196Tyr
XM_011522531.1:c.3568C>T	XP_011520833.1:p.His1190Tyr
XM_011522532.1:c.3514C>T	XP_011520834.1:p.His1172Tyr
XM_011522533.1:c.3433C>T	XP_011520835.1:p.His1145Tyr
XM_011522534.1:c.3376C>T	XP_011520836.1:p.His1126Tyr
XM_011522535.1:c.1462C>T	XP_011520837.1:p.His488Tyr
XM_011522536.1:c.3640C>T	XP_011520838.1:p.His1214Tyr
XM_011522537.1:c.640C>T	XP_011520839.1:p.His214Tyr
XR_932867.1:n.3655C>T
XR_932868.1:n.3655C>T
XR_932869.1:n.3655C>T
XR_932870.1:n.3655C>T
XM_005255370.3:c.517C>T	XP_005255427.1:p.His173Tyr
XM_011522528.3:c.3616C>T	XP_011520830.1:p.His1206Tyr
XM_011522529.2:c.3616C>T	XP_011520831.1:p.His1206Tyr
XM_011522537.2:c.640C>T	XP_011520839.1:p.His214Tyr
XM_024450298.1:c.3682C>T	XP_024306066.1:p.His1228Tyr
XM_024450299.1:c.3610C>T	XP_024306067.1:p.His1204Tyr
XM_024450300.1:c.3472C>T	XP_024306068.1:p.His1158Tyr
XM_024450301.1:c.1558C>T	XP_024306069.1:p.His520Tyr
NM_000296.4:c.3562C>T	NP_000287.4:p.His1188Tyr
NM_001009944.3:c.3562C>T MANE Select	NP_001009944.3:p.His1188Tyr