Canonical Allele Identifier: CA7830611

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2103850G>C , CM000678.2:g.2103850G>C	GRCh38
NC_000016.9:g.2153851G>C , CM000678.1:g.2153851G>C	GRCh37
NC_000016.8:g.2093852G>C	NCBI36
NG_008617.1:g.39371C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.8207C>G MANE Select	NP_001009944.3:p.Pro2736Arg
ENST00000262304.9:c.8207C>G MANE Select	ENSP00000262304.4:p.Pro2736Arg
NM_000296.3:c.8207C>G	NP_000287.3:p.Pro2736Arg
NM_000296.4:c.8207C>G	NP_000287.4:p.Pro2736Arg
NM_001009944.2:c.8207C>G	NP_001009944.2:p.Pro2736Arg
ENST00000262304.8:c.8207C>G	ENSP00000262304.4:p.Pro2736Arg
ENST00000415938.7:n.1452C>G
ENST00000423118.5:c.8207C>G	ENSP00000399501.1:p.Pro2736Arg
ENST00000483731.5:n.1932C>G
ENST00000486339.6:n.2343C>G
ENST00000487932.5:c.2894C>G	ENSP00000457132.1:p.Pro965Arg
ENST00000496574.6:n.2443C>G
ENST00000561991.5:n.729C>G
ENST00000565639.6:n.1915C>G
ENST00000567946.1:c.268C>G
XM_005255370.2:c.5162C>G	XP_005255427.1:p.Pro1721Arg
XM_005255370.3:c.5162C>G	XP_005255427.1:p.Pro1721Arg
XM_011522525.1:c.8285C>G	XP_011520827.1:p.Pro2762Arg
XM_011522526.1:c.8285C>G	XP_011520828.1:p.Pro2762Arg
XM_011522527.1:c.8285C>G	XP_011520829.1:p.Pro2762Arg
XM_011522528.1:c.8261C>G	XP_011520830.1:p.Pro2754Arg
XM_011522528.3:c.8261C>G	XP_011520830.1:p.Pro2754Arg
XM_011522529.1:c.8261C>G	XP_011520831.1:p.Pro2754Arg
XM_011522529.2:c.8261C>G	XP_011520831.1:p.Pro2754Arg
XM_011522530.1:c.8231C>G	XP_011520832.1:p.Pro2744Arg
XM_011522531.1:c.8213C>G	XP_011520833.1:p.Pro2738Arg
XM_011522532.1:c.8159C>G	XP_011520834.1:p.Pro2720Arg
XM_011522533.1:c.8078C>G	XP_011520835.1:p.Pro2693Arg
XM_011522534.1:c.8021C>G	XP_011520836.1:p.Pro2674Arg
XM_011522535.1:c.6107C>G	XP_011520837.1:p.Pro2036Arg
XM_011522536.1:c.8285C>G	XP_011520838.1:p.Pro2762Arg
XM_011522537.1:c.5285C>G	XP_011520839.1:p.Pro1762Arg
XM_011522537.2:c.5285C>G	XP_011520839.1:p.Pro1762Arg
XM_024450298.1:c.8327C>G	XP_024306066.1:p.Pro2776Arg
XM_024450299.1:c.8255C>G	XP_024306067.1:p.Pro2752Arg
XM_024450300.1:c.8117C>G	XP_024306068.1:p.Pro2706Arg
XM_024450301.1:c.6203C>G	XP_024306069.1:p.Pro2068Arg
XR_932867.1:n.8300C>G
XR_932868.1:n.8300C>G
XR_932869.1:n.8300C>G
XR_932870.1:n.8300C>G