Canonical Allele Identifier: CA493044288

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140544C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090543C>G , CM000678.2:g.2090543C>G	GRCh38
NC_000016.9:g.2140544C>G , CM000678.1:g.2140544C>G	GRCh37
NC_000016.8:g.2080545C>G	NCBI36
NG_005895.1:g.46238C>G , LRG_487:g.46238C>G
NG_008617.1:g.52678G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12186G>C MANE Select	ENSP00000262304.4:p.Leu4062=
ENST00000262304.8:c.12186G>C	ENSP00000262304.4:p.Leu4062=
ENST00000423118.5:c.12183G>C	ENSP00000399501.1:p.Leu4061=
ENST00000472577.1:n.214G>C
NM_000296.3:c.12183G>C	NP_000287.3:p.Leu4061=
NM_001009944.2:c.12186G>C	NP_001009944.2:p.Leu4062=
XM_005255370.2:c.9141G>C	XP_005255427.1:p.Leu3047=
XM_011522525.1:c.12264G>C	XP_011520827.1:p.Leu4088=
XM_011522526.1:c.12261G>C	XP_011520828.1:p.Leu4087=
XM_011522527.1:c.12246G>C	XP_011520829.1:p.Leu4082=
XM_011522528.1:c.12240G>C	XP_011520830.1:p.Leu4080=
XM_011522529.1:c.12237G>C	XP_011520831.1:p.Leu4079=
XM_011522530.1:c.12210G>C	XP_011520832.1:p.Leu4070=
XM_011522531.1:c.12192G>C	XP_011520833.1:p.Leu4064=
XM_011522532.1:c.12138G>C	XP_011520834.1:p.Leu4046=
XM_011522533.1:c.12057G>C	XP_011520835.1:p.Leu4019=
XM_011522534.1:c.12000G>C	XP_011520836.1:p.Leu4000=
XM_011522535.1:c.10086G>C	XP_011520837.1:p.Leu3362=
XM_011522537.1:c.9264G>C	XP_011520839.1:p.Leu3088=
XR_932867.1:n.12104G>C
XM_005255370.3:c.9141G>C	XP_005255427.1:p.Leu3047=
XM_011522528.3:c.12240G>C	XP_011520830.1:p.Leu4080=
XM_011522529.2:c.12237G>C	XP_011520831.1:p.Leu4079=
XM_011522537.2:c.9264G>C	XP_011520839.1:p.Leu3088=
XM_024450298.1:c.12306G>C	XP_024306066.1:p.Leu4102=
XM_024450299.1:c.12234G>C	XP_024306067.1:p.Leu4078=
XM_024450300.1:c.12096G>C	XP_024306068.1:p.Leu4032=
XM_024450301.1:c.10182G>C	XP_024306069.1:p.Leu3394=
NM_000296.4:c.12183G>C	NP_000287.4:p.Leu4061=
NM_001009944.3:c.12186G>C MANE Select	NP_001009944.3:p.Leu4062=