Canonical Allele Identifier: CA394320327

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2089915G>A , CM000678.2:g.2089915G>A	GRCh38
NC_000016.9:g.2139916G>A , CM000678.1:g.2139916G>A	GRCh37
NC_000016.8:g.2079917G>A	NCBI36
NG_005895.1:g.45610G>A , LRG_487:g.45610G>A
NG_008617.1:g.53306C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12724C>T MANE Select	ENSP00000262304.4:p.Gln4242Ter
ENST00000262304.8:c.12724C>T	ENSP00000262304.4:p.Gln4242Ter
ENST00000423118.5:c.12721C>T	ENSP00000399501.1:p.Gln4241Ter
ENST00000472577.1:n.752C>T
NM_000296.3:c.12721C>T	NP_000287.3:p.Gln4241Ter
NM_001009944.2:c.12724C>T	NP_001009944.2:p.Gln4242Ter
XM_005255370.2:c.9679C>T	XP_005255427.1:p.Gln3227Ter
XM_011522525.1:c.12802C>T	XP_011520827.1:p.Gln4268Ter
XM_011522526.1:c.12799C>T	XP_011520828.1:p.Gln4267Ter
XM_011522527.1:c.12784C>T	XP_011520829.1:p.Gln4262Ter
XM_011522528.1:c.12778C>T	XP_011520830.1:p.Gln4260Ter
XM_011522529.1:c.12775C>T	XP_011520831.1:p.Gln4259Ter
XM_011522530.1:c.12748C>T	XP_011520832.1:p.Gln4250Ter
XM_011522531.1:c.12730C>T	XP_011520833.1:p.Gln4244Ter
XM_011522532.1:c.12676C>T	XP_011520834.1:p.Gln4226Ter
XM_011522533.1:c.12595C>T	XP_011520835.1:p.Gln4199Ter
XM_011522534.1:c.12538C>T	XP_011520836.1:p.Gln4180Ter
XM_011522535.1:c.10624C>T	XP_011520837.1:p.Gln3542Ter
XM_011522537.1:c.9802C>T	XP_011520839.1:p.Gln3268Ter
XM_005255370.3:c.9679C>T	XP_005255427.1:p.Gln3227Ter
XM_011522528.3:c.12778C>T	XP_011520830.1:p.Gln4260Ter
XM_011522529.2:c.12775C>T	XP_011520831.1:p.Gln4259Ter
XM_011522537.2:c.9802C>T	XP_011520839.1:p.Gln3268Ter
XM_024450298.1:c.12844C>T	XP_024306066.1:p.Gln4282Ter
XM_024450299.1:c.12772C>T	XP_024306067.1:p.Gln4258Ter
XM_024450300.1:c.12634C>T	XP_024306068.1:p.Gln4212Ter
XM_024450301.1:c.10720C>T	XP_024306069.1:p.Gln3574Ter
NM_000296.4:c.12721C>T	NP_000287.4:p.Gln4241Ter
NM_001009944.3:c.12724C>T MANE Select	NP_001009944.3:p.Gln4242Ter