Canonical Allele Identifier: CA394373142
Community Standard Title: NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu)
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2108511G>A , CM000678.2:g.2108511G>A GRCh38
NC_000016.9:g.2158512G>A , CM000678.1:g.2158512G>A GRCh37
NC_000016.8:g.2098513G>A NCBI36
NG_008617.1:g.32388C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.6656C>T MANE Select NP_001009944.3:p.Pro2219Leu
ENST00000262304.9:c.6656C>T MANE Select ENSP00000262304.4:p.Pro2219Leu
NM_000296.3:c.6656C>T NP_000287.3:p.Pro2219Leu
NM_000296.4:c.6656C>T NP_000287.4:p.Pro2219Leu
NM_001009944.2:c.6656C>T NP_001009944.2:p.Pro2219Leu
ENST00000262304.8:c.6656C>T ENSP00000262304.4:p.Pro2219Leu
ENST00000415938.7:n.311-1563C>T
ENST00000423118.5:c.6656C>T ENSP00000399501.1:p.Pro2219Leu
ENST00000473780.2:n.38C>T
ENST00000483024.1:c.234-1563C>T
ENST00000483731.5:n.791-1563C>T
ENST00000487932.5:c.1343C>T ENSP00000457132.1:p.Pro448Leu
ENST00000488185.2:c.473-153C>T
ENST00000565639.6:n.774-1563C>T
ENST00000568591.5:c.2227-1563C>T ENSP00000457162.1:n.2227-1563C>T
ENST00000569983.5:n.422-1563C>T
XM_005255370.2:c.3611C>T XP_005255427.1:p.Pro1204Leu
XM_005255370.3:c.3611C>T XP_005255427.1:p.Pro1204Leu
XM_011522525.1:c.6734C>T XP_011520827.1:p.Pro2245Leu
XM_011522526.1:c.6734C>T XP_011520828.1:p.Pro2245Leu
XM_011522527.1:c.6734C>T XP_011520829.1:p.Pro2245Leu
XM_011522528.1:c.6710C>T XP_011520830.1:p.Pro2237Leu
XM_011522528.3:c.6710C>T XP_011520830.1:p.Pro2237Leu
XM_011522529.1:c.6710C>T XP_011520831.1:p.Pro2237Leu
XM_011522529.2:c.6710C>T XP_011520831.1:p.Pro2237Leu
XM_011522530.1:c.6680C>T XP_011520832.1:p.Pro2227Leu
XM_011522531.1:c.6662C>T XP_011520833.1:p.Pro2221Leu
XM_011522532.1:c.6608C>T XP_011520834.1:p.Pro2203Leu
XM_011522533.1:c.6527C>T XP_011520835.1:p.Pro2176Leu
XM_011522534.1:c.6470C>T XP_011520836.1:p.Pro2157Leu
XM_011522535.1:c.4556C>T XP_011520837.1:p.Pro1519Leu
XM_011522536.1:c.6734C>T XP_011520838.1:p.Pro2245Leu
XM_011522537.1:c.3734C>T XP_011520839.1:p.Pro1245Leu
XM_011522537.2:c.3734C>T XP_011520839.1:p.Pro1245Leu
XM_024450298.1:c.6776C>T XP_024306066.1:p.Pro2259Leu
XM_024450299.1:c.6704C>T XP_024306067.1:p.Pro2235Leu
XM_024450300.1:c.6566C>T XP_024306068.1:p.Pro2189Leu
XM_024450301.1:c.4652C>T XP_024306069.1:p.Pro1551Leu
XR_932867.1:n.6749C>T
XR_932868.1:n.6749C>T
XR_932869.1:n.6749C>T
XR_932870.1:n.6749C>T