Canonical Allele Identifier: CA493044376

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140415A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090414A>G , CM000678.2:g.2090414A>G	GRCh38
NC_000016.9:g.2140415A>G , CM000678.1:g.2140415A>G	GRCh37
NC_000016.8:g.2080416A>G	NCBI36
NG_005895.1:g.46109A>G , LRG_487:g.46109A>G
NG_008617.1:g.52807T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12315T>C MANE Select	ENSP00000262304.4:p.Ile4105=
ENST00000262304.8:c.12315T>C	ENSP00000262304.4:p.Ile4105=
ENST00000423118.5:c.12312T>C	ENSP00000399501.1:p.Ile4104=
ENST00000472577.1:n.343T>C
NM_000296.3:c.12312T>C	NP_000287.3:p.Ile4104=
NM_001009944.2:c.12315T>C	NP_001009944.2:p.Ile4105=
XM_005255370.2:c.9270T>C	XP_005255427.1:p.Ile3090=
XM_011522525.1:c.12393T>C	XP_011520827.1:p.Ile4131=
XM_011522526.1:c.12390T>C	XP_011520828.1:p.Ile4130=
XM_011522527.1:c.12375T>C	XP_011520829.1:p.Ile4125=
XM_011522528.1:c.12369T>C	XP_011520830.1:p.Ile4123=
XM_011522529.1:c.12366T>C	XP_011520831.1:p.Ile4122=
XM_011522530.1:c.12339T>C	XP_011520832.1:p.Ile4113=
XM_011522531.1:c.12321T>C	XP_011520833.1:p.Ile4107=
XM_011522532.1:c.12267T>C	XP_011520834.1:p.Ile4089=
XM_011522533.1:c.12186T>C	XP_011520835.1:p.Ile4062=
XM_011522534.1:c.12129T>C	XP_011520836.1:p.Ile4043=
XM_011522535.1:c.10215T>C	XP_011520837.1:p.Ile3405=
XM_011522537.1:c.9393T>C	XP_011520839.1:p.Ile3131=
XR_932867.1:n.12233T>C
XM_005255370.3:c.9270T>C	XP_005255427.1:p.Ile3090=
XM_011522528.3:c.12369T>C	XP_011520830.1:p.Ile4123=
XM_011522529.2:c.12366T>C	XP_011520831.1:p.Ile4122=
XM_011522537.2:c.9393T>C	XP_011520839.1:p.Ile3131=
XM_024450298.1:c.12435T>C	XP_024306066.1:p.Ile4145=
XM_024450299.1:c.12363T>C	XP_024306067.1:p.Ile4121=
XM_024450300.1:c.12225T>C	XP_024306068.1:p.Ile4075=
XM_024450301.1:c.10311T>C	XP_024306069.1:p.Ile3437=
NM_000296.4:c.12312T>C	NP_000287.4:p.Ile4104=
NM_001009944.3:c.12315T>C MANE Select	NP_001009944.3:p.Ile4105=