Canonical Allele Identifier: CA394326503

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140542A>G (hg19) ; chr16:g.2090541A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090541A>G , CM000678.2:g.2090541A>G	GRCh38
NC_000016.9:g.2140542A>G , CM000678.1:g.2140542A>G	GRCh37
NC_000016.8:g.2080543A>G	NCBI36
NG_005895.1:g.46236A>G , LRG_487:g.46236A>G
NG_008617.1:g.52680T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12188T>C MANE Select	ENSP00000262304.4:p.Leu4063Ser
ENST00000262304.8:c.12188T>C	ENSP00000262304.4:p.Leu4063Ser
ENST00000423118.5:c.12185T>C	ENSP00000399501.1:p.Leu4062Ser
ENST00000472577.1:n.216T>C
NM_000296.3:c.12185T>C	NP_000287.3:p.Leu4062Ser
NM_001009944.2:c.12188T>C	NP_001009944.2:p.Leu4063Ser
XM_005255370.2:c.9143T>C	XP_005255427.1:p.Leu3048Ser
XM_011522525.1:c.12266T>C	XP_011520827.1:p.Leu4089Ser
XM_011522526.1:c.12263T>C	XP_011520828.1:p.Leu4088Ser
XM_011522527.1:c.12248T>C	XP_011520829.1:p.Leu4083Ser
XM_011522528.1:c.12242T>C	XP_011520830.1:p.Leu4081Ser
XM_011522529.1:c.12239T>C	XP_011520831.1:p.Leu4080Ser
XM_011522530.1:c.12212T>C	XP_011520832.1:p.Leu4071Ser
XM_011522531.1:c.12194T>C	XP_011520833.1:p.Leu4065Ser
XM_011522532.1:c.12140T>C	XP_011520834.1:p.Leu4047Ser
XM_011522533.1:c.12059T>C	XP_011520835.1:p.Leu4020Ser
XM_011522534.1:c.12002T>C	XP_011520836.1:p.Leu4001Ser
XM_011522535.1:c.10088T>C	XP_011520837.1:p.Leu3363Ser
XM_011522537.1:c.9266T>C	XP_011520839.1:p.Leu3089Ser
XR_932867.1:n.12106T>C
XM_005255370.3:c.9143T>C	XP_005255427.1:p.Leu3048Ser
XM_011522528.3:c.12242T>C	XP_011520830.1:p.Leu4081Ser
XM_011522529.2:c.12239T>C	XP_011520831.1:p.Leu4080Ser
XM_011522537.2:c.9266T>C	XP_011520839.1:p.Leu3089Ser
XM_024450298.1:c.12308T>C	XP_024306066.1:p.Leu4103Ser
XM_024450299.1:c.12236T>C	XP_024306067.1:p.Leu4079Ser
XM_024450300.1:c.12098T>C	XP_024306068.1:p.Leu4033Ser
XM_024450301.1:c.10184T>C	XP_024306069.1:p.Leu3395Ser
NM_000296.4:c.12185T>C	NP_000287.4:p.Leu4062Ser
NM_001009944.3:c.12188T>C MANE Select	NP_001009944.3:p.Leu4063Ser