Canonical Allele Identifier: CA7831481
Community Standard Title: NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met)
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2108418G>A , CM000678.2:g.2108418G>A GRCh38
NC_000016.9:g.2158419G>A , CM000678.1:g.2158419G>A GRCh37
NC_000016.8:g.2098420G>A NCBI36
NG_008617.1:g.32481C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.6749C>T MANE Select NP_001009944.3:p.Thr2250Met
ENST00000262304.9:c.6749C>T MANE Select ENSP00000262304.4:p.Thr2250Met
NM_000296.3:c.6749C>T NP_000287.3:p.Thr2250Met
NM_000296.4:c.6749C>T NP_000287.4:p.Thr2250Met
NM_001009944.2:c.6749C>T NP_001009944.2:p.Thr2250Met
ENST00000262304.8:c.6749C>T ENSP00000262304.4:p.Thr2250Met
ENST00000415938.7:n.311-1470C>T
ENST00000423118.5:c.6749C>T ENSP00000399501.1:p.Thr2250Met
ENST00000473780.2:n.131C>T
ENST00000483024.1:c.234-1470C>T
ENST00000483731.5:n.791-1470C>T
ENST00000487932.5:c.1436C>T ENSP00000457132.1:p.Thr479Met
ENST00000488185.2:c.473-60C>T
ENST00000565639.6:n.774-1470C>T
ENST00000568591.5:c.2227-1470C>T ENSP00000457162.1:n.2227-1470C>T
ENST00000569983.5:n.422-1470C>T
XM_005255370.2:c.3704C>T XP_005255427.1:p.Thr1235Met
XM_005255370.3:c.3704C>T XP_005255427.1:p.Thr1235Met
XM_011522525.1:c.6827C>T XP_011520827.1:p.Thr2276Met
XM_011522526.1:c.6827C>T XP_011520828.1:p.Thr2276Met
XM_011522527.1:c.6827C>T XP_011520829.1:p.Thr2276Met
XM_011522528.1:c.6803C>T XP_011520830.1:p.Thr2268Met
XM_011522528.3:c.6803C>T XP_011520830.1:p.Thr2268Met
XM_011522529.1:c.6803C>T XP_011520831.1:p.Thr2268Met
XM_011522529.2:c.6803C>T XP_011520831.1:p.Thr2268Met
XM_011522530.1:c.6773C>T XP_011520832.1:p.Thr2258Met
XM_011522531.1:c.6755C>T XP_011520833.1:p.Thr2252Met
XM_011522532.1:c.6701C>T XP_011520834.1:p.Thr2234Met
XM_011522533.1:c.6620C>T XP_011520835.1:p.Thr2207Met
XM_011522534.1:c.6563C>T XP_011520836.1:p.Thr2188Met
XM_011522535.1:c.4649C>T XP_011520837.1:p.Thr1550Met
XM_011522536.1:c.6827C>T XP_011520838.1:p.Thr2276Met
XM_011522537.1:c.3827C>T XP_011520839.1:p.Thr1276Met
XM_011522537.2:c.3827C>T XP_011520839.1:p.Thr1276Met
XM_024450298.1:c.6869C>T XP_024306066.1:p.Thr2290Met
XM_024450299.1:c.6797C>T XP_024306067.1:p.Thr2266Met
XM_024450300.1:c.6659C>T XP_024306068.1:p.Thr2220Met
XM_024450301.1:c.4745C>T XP_024306069.1:p.Thr1582Met
XR_932867.1:n.6842C>T
XR_932868.1:n.6842C>T
XR_932869.1:n.6842C>T
XR_932870.1:n.6842C>T