Canonical Allele Identifier: CA7828931

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090930G>A , CM000678.2:g.2090930G>A	GRCh38
NC_000016.9:g.2140931G>A , CM000678.1:g.2140931G>A	GRCh37
NC_000016.8:g.2080932G>A	NCBI36
NG_005895.1:g.46625G>A , LRG_487:g.46625G>A
NG_008617.1:g.52291C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11957C>T MANE Select	ENSP00000262304.4:p.Ala3986Val
ENST00000262304.8:c.11957C>T	ENSP00000262304.4:p.Ala3986Val
ENST00000423118.5:c.11954C>T	ENSP00000399501.1:p.Ala3985Val
ENST00000561668.5:c.618C>T
ENST00000564313.1:n.478C>T
NM_000296.3:c.11954C>T	NP_000287.3:p.Ala3985Val
NM_001009944.2:c.11957C>T	NP_001009944.2:p.Ala3986Val
XM_005255370.2:c.8912C>T	XP_005255427.1:p.Ala2971Val
XM_011522525.1:c.12035C>T	XP_011520827.1:p.Ala4012Val
XM_011522526.1:c.12032C>T	XP_011520828.1:p.Ala4011Val
XM_011522527.1:c.12017C>T	XP_011520829.1:p.Ala4006Val
XM_011522528.1:c.12011C>T	XP_011520830.1:p.Ala4004Val
XM_011522529.1:c.12008C>T	XP_011520831.1:p.Ala4003Val
XM_011522530.1:c.11981C>T	XP_011520832.1:p.Ala3994Val
XM_011522531.1:c.11963C>T	XP_011520833.1:p.Ala3988Val
XM_011522532.1:c.11909C>T	XP_011520834.1:p.Ala3970Val
XM_011522533.1:c.11828C>T	XP_011520835.1:p.Ala3943Val
XM_011522534.1:c.11771C>T	XP_011520836.1:p.Ala3924Val
XM_011522535.1:c.9857C>T	XP_011520837.1:p.Ala3286Val
XM_011522537.1:c.9035C>T	XP_011520839.1:p.Ala3012Val
XR_932867.1:n.11875C>T
XR_932869.1:n.11622C>T
XM_005255370.3:c.8912C>T	XP_005255427.1:p.Ala2971Val
XM_011522528.3:c.12011C>T	XP_011520830.1:p.Ala4004Val
XM_011522529.2:c.12008C>T	XP_011520831.1:p.Ala4003Val
XM_011522537.2:c.9035C>T	XP_011520839.1:p.Ala3012Val
XM_024450298.1:c.12077C>T	XP_024306066.1:p.Ala4026Val
XM_024450299.1:c.12005C>T	XP_024306067.1:p.Ala4002Val
XM_024450300.1:c.11867C>T	XP_024306068.1:p.Ala3956Val
XM_024450301.1:c.9953C>T	XP_024306069.1:p.Ala3318Val
NM_000296.4:c.11954C>T	NP_000287.4:p.Ala3985Val
NM_001009944.3:c.11957C>T MANE Select	NP_001009944.3:p.Ala3986Val