Canonical Allele Identifier: CA7830614

Gene: PKD1

Linked Data

• dbSNP Id: rs141717814
• ExAC: 16:2153854 T / C
• gnomAD v2: 16-2153854-T-C
• gnomAD v3: 16-2103853-T-C
• gnomAD v4: 16-2103853-T-C
• MyVariant Identifiers: chr16:g.2153854T>C (hg19) ; chr16:g.2103853T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2103853T>C , CM000678.2:g.2103853T>C	GRCh38
NC_000016.9:g.2153854T>C , CM000678.1:g.2153854T>C	GRCh37
NC_000016.8:g.2093855T>C	NCBI36
NG_008617.1:g.39368A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.8204A>G MANE Select	ENSP00000262304.4:p.Gln2735Arg
ENST00000262304.8:c.8204A>G	ENSP00000262304.4:p.Gln2735Arg
ENST00000415938.7:n.1449A>G
ENST00000423118.5:c.8204A>G	ENSP00000399501.1:p.Gln2735Arg
ENST00000483731.5:n.1929A>G
ENST00000486339.6:n.2340A>G
ENST00000487932.5:c.2891A>G	ENSP00000457132.1:p.Gln964Arg
ENST00000496574.6:n.2440A>G
ENST00000561991.5:n.726A>G
ENST00000565639.6:n.1912A>G
ENST00000567946.1:c.265A>G
NM_000296.3:c.8204A>G	NP_000287.3:p.Gln2735Arg
NM_001009944.2:c.8204A>G	NP_001009944.2:p.Gln2735Arg
XM_005255370.2:c.5159A>G	XP_005255427.1:p.Gln1720Arg
XM_011522525.1:c.8282A>G	XP_011520827.1:p.Gln2761Arg
XM_011522526.1:c.8282A>G	XP_011520828.1:p.Gln2761Arg
XM_011522527.1:c.8282A>G	XP_011520829.1:p.Gln2761Arg
XM_011522528.1:c.8258A>G	XP_011520830.1:p.Gln2753Arg
XM_011522529.1:c.8258A>G	XP_011520831.1:p.Gln2753Arg
XM_011522530.1:c.8228A>G	XP_011520832.1:p.Gln2743Arg
XM_011522531.1:c.8210A>G	XP_011520833.1:p.Gln2737Arg
XM_011522532.1:c.8156A>G	XP_011520834.1:p.Gln2719Arg
XM_011522533.1:c.8075A>G	XP_011520835.1:p.Gln2692Arg
XM_011522534.1:c.8018A>G	XP_011520836.1:p.Gln2673Arg
XM_011522535.1:c.6104A>G	XP_011520837.1:p.Gln2035Arg
XM_011522536.1:c.8282A>G	XP_011520838.1:p.Gln2761Arg
XM_011522537.1:c.5282A>G	XP_011520839.1:p.Gln1761Arg
XR_932867.1:n.8297A>G
XR_932868.1:n.8297A>G
XR_932869.1:n.8297A>G
XR_932870.1:n.8297A>G
XM_005255370.3:c.5159A>G	XP_005255427.1:p.Gln1720Arg
XM_011522528.3:c.8258A>G	XP_011520830.1:p.Gln2753Arg
XM_011522529.2:c.8258A>G	XP_011520831.1:p.Gln2753Arg
XM_011522537.2:c.5282A>G	XP_011520839.1:p.Gln1761Arg
XM_024450298.1:c.8324A>G	XP_024306066.1:p.Gln2775Arg
XM_024450299.1:c.8252A>G	XP_024306067.1:p.Gln2751Arg
XM_024450300.1:c.8114A>G	XP_024306068.1:p.Gln2705Arg
XM_024450301.1:c.6200A>G	XP_024306069.1:p.Gln2067Arg
NM_000296.4:c.8204A>G	NP_000287.4:p.Gln2735Arg
NM_001009944.3:c.8204A>G MANE Select	NP_001009944.3:p.Gln2735Arg