Canonical Allele Identifier: CA394327142

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090742G>A , CM000678.2:g.2090742G>A	GRCh38
NC_000016.9:g.2140743G>A , CM000678.1:g.2140743G>A	GRCh37
NC_000016.8:g.2080744G>A	NCBI36
NG_005895.1:g.46437G>A , LRG_487:g.46437G>A
NG_008617.1:g.52479C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12070C>T MANE Select	ENSP00000262304.4:p.Pro4024Ser
ENST00000262304.8:c.12070C>T	ENSP00000262304.4:p.Pro4024Ser
ENST00000423118.5:c.12067C>T	ENSP00000399501.1:p.Pro4023Ser
ENST00000472577.1:n.98C>T
NM_000296.3:c.12067C>T	NP_000287.3:p.Pro4023Ser
NM_001009944.2:c.12070C>T	NP_001009944.2:p.Pro4024Ser
XM_005255370.2:c.9025C>T	XP_005255427.1:p.Pro3009Ser
XM_011522525.1:c.12148C>T	XP_011520827.1:p.Pro4050Ser
XM_011522526.1:c.12145C>T	XP_011520828.1:p.Pro4049Ser
XM_011522527.1:c.12130C>T	XP_011520829.1:p.Pro4044Ser
XM_011522528.1:c.12124C>T	XP_011520830.1:p.Pro4042Ser
XM_011522529.1:c.12121C>T	XP_011520831.1:p.Pro4041Ser
XM_011522530.1:c.12094C>T	XP_011520832.1:p.Pro4032Ser
XM_011522531.1:c.12076C>T	XP_011520833.1:p.Pro4026Ser
XM_011522532.1:c.12022C>T	XP_011520834.1:p.Pro4008Ser
XM_011522533.1:c.11941C>T	XP_011520835.1:p.Pro3981Ser
XM_011522534.1:c.11884C>T	XP_011520836.1:p.Pro3962Ser
XM_011522535.1:c.9970C>T	XP_011520837.1:p.Pro3324Ser
XM_011522537.1:c.9148C>T	XP_011520839.1:p.Pro3050Ser
XR_932867.1:n.11988C>T
XM_005255370.3:c.9025C>T	XP_005255427.1:p.Pro3009Ser
XM_011522528.3:c.12124C>T	XP_011520830.1:p.Pro4042Ser
XM_011522529.2:c.12121C>T	XP_011520831.1:p.Pro4041Ser
XM_011522537.2:c.9148C>T	XP_011520839.1:p.Pro3050Ser
XM_024450298.1:c.12190C>T	XP_024306066.1:p.Pro4064Ser
XM_024450299.1:c.12118C>T	XP_024306067.1:p.Pro4040Ser
XM_024450300.1:c.11980C>T	XP_024306068.1:p.Pro3994Ser
XM_024450301.1:c.10066C>T	XP_024306069.1:p.Pro3356Ser
NM_000296.4:c.12067C>T	NP_000287.4:p.Pro4023Ser
NM_001009944.3:c.12070C>T MANE Select	NP_001009944.3:p.Pro4024Ser