Canonical Allele Identifier: CA394365231

Gene: PKD1

Linked Data

• gnomAD v4: 16-2103875-T-C
• MyVariant Identifiers: chr16:g.2153876T>C (hg19) ; chr16:g.2103875T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2103875T>C , CM000678.2:g.2103875T>C	GRCh38
NC_000016.9:g.2153876T>C , CM000678.1:g.2153876T>C	GRCh37
NC_000016.8:g.2093877T>C	NCBI36
NG_008617.1:g.39346A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.8182A>G MANE Select	ENSP00000262304.4:p.Ser2728Gly
ENST00000262304.8:c.8182A>G	ENSP00000262304.4:p.Ser2728Gly
ENST00000415938.7:n.1427A>G
ENST00000423118.5:c.8182A>G	ENSP00000399501.1:p.Ser2728Gly
ENST00000483731.5:n.1907A>G
ENST00000486339.6:n.2318A>G
ENST00000487932.5:c.2869A>G	ENSP00000457132.1:p.Ser957Gly
ENST00000496574.6:n.2418A>G
ENST00000561991.5:n.704A>G
ENST00000565639.6:n.1890A>G
ENST00000567946.1:c.243A>G
NM_000296.3:c.8182A>G	NP_000287.3:p.Ser2728Gly
NM_001009944.2:c.8182A>G	NP_001009944.2:p.Ser2728Gly
XM_005255370.2:c.5137A>G	XP_005255427.1:p.Ser1713Gly
XM_011522525.1:c.8260A>G	XP_011520827.1:p.Ser2754Gly
XM_011522526.1:c.8260A>G	XP_011520828.1:p.Ser2754Gly
XM_011522527.1:c.8260A>G	XP_011520829.1:p.Ser2754Gly
XM_011522528.1:c.8236A>G	XP_011520830.1:p.Ser2746Gly
XM_011522529.1:c.8236A>G	XP_011520831.1:p.Ser2746Gly
XM_011522530.1:c.8206A>G	XP_011520832.1:p.Ser2736Gly
XM_011522531.1:c.8188A>G	XP_011520833.1:p.Ser2730Gly
XM_011522532.1:c.8134A>G	XP_011520834.1:p.Ser2712Gly
XM_011522533.1:c.8053A>G	XP_011520835.1:p.Ser2685Gly
XM_011522534.1:c.7996A>G	XP_011520836.1:p.Ser2666Gly
XM_011522535.1:c.6082A>G	XP_011520837.1:p.Ser2028Gly
XM_011522536.1:c.8260A>G	XP_011520838.1:p.Ser2754Gly
XM_011522537.1:c.5260A>G	XP_011520839.1:p.Ser1754Gly
XR_932867.1:n.8275A>G
XR_932868.1:n.8275A>G
XR_932869.1:n.8275A>G
XR_932870.1:n.8275A>G
XM_005255370.3:c.5137A>G	XP_005255427.1:p.Ser1713Gly
XM_011522528.3:c.8236A>G	XP_011520830.1:p.Ser2746Gly
XM_011522529.2:c.8236A>G	XP_011520831.1:p.Ser2746Gly
XM_011522537.2:c.5260A>G	XP_011520839.1:p.Ser1754Gly
XM_024450298.1:c.8302A>G	XP_024306066.1:p.Ser2768Gly
XM_024450299.1:c.8230A>G	XP_024306067.1:p.Ser2744Gly
XM_024450300.1:c.8092A>G	XP_024306068.1:p.Ser2698Gly
XM_024450301.1:c.6178A>G	XP_024306069.1:p.Ser2060Gly
NM_000296.4:c.8182A>G	NP_000287.4:p.Ser2728Gly
NM_001009944.3:c.8182A>G MANE Select	NP_001009944.3:p.Ser2728Gly