Canonical Allele Identifier: CA7828732

Gene: PKD1

Linked Data

• dbSNP Id: rs753295756
• ExAC: 16:2140543 A / G
• gnomAD v2: 16-2140543-A-G
• MyVariant Identifiers: chr16:g.2140543A>G (hg19) ; chr16:g.2090542A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090542A>G , CM000678.2:g.2090542A>G	GRCh38
NC_000016.9:g.2140543A>G , CM000678.1:g.2140543A>G	GRCh37
NC_000016.8:g.2080544A>G	NCBI36
NG_005895.1:g.46237A>G , LRG_487:g.46237A>G
NG_008617.1:g.52679T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12187T>C MANE Select	ENSP00000262304.4:p.Leu4063=
ENST00000262304.8:c.12187T>C	ENSP00000262304.4:p.Leu4063=
ENST00000423118.5:c.12184T>C	ENSP00000399501.1:p.Leu4062=
ENST00000472577.1:n.215T>C
NM_000296.3:c.12184T>C	NP_000287.3:p.Leu4062=
NM_001009944.2:c.12187T>C	NP_001009944.2:p.Leu4063=
XM_005255370.2:c.9142T>C	XP_005255427.1:p.Leu3048=
XM_011522525.1:c.12265T>C	XP_011520827.1:p.Leu4089=
XM_011522526.1:c.12262T>C	XP_011520828.1:p.Leu4088=
XM_011522527.1:c.12247T>C	XP_011520829.1:p.Leu4083=
XM_011522528.1:c.12241T>C	XP_011520830.1:p.Leu4081=
XM_011522529.1:c.12238T>C	XP_011520831.1:p.Leu4080=
XM_011522530.1:c.12211T>C	XP_011520832.1:p.Leu4071=
XM_011522531.1:c.12193T>C	XP_011520833.1:p.Leu4065=
XM_011522532.1:c.12139T>C	XP_011520834.1:p.Leu4047=
XM_011522533.1:c.12058T>C	XP_011520835.1:p.Leu4020=
XM_011522534.1:c.12001T>C	XP_011520836.1:p.Leu4001=
XM_011522535.1:c.10087T>C	XP_011520837.1:p.Leu3363=
XM_011522537.1:c.9265T>C	XP_011520839.1:p.Leu3089=
XR_932867.1:n.12105T>C
XM_005255370.3:c.9142T>C	XP_005255427.1:p.Leu3048=
XM_011522528.3:c.12241T>C	XP_011520830.1:p.Leu4081=
XM_011522529.2:c.12238T>C	XP_011520831.1:p.Leu4080=
XM_011522537.2:c.9265T>C	XP_011520839.1:p.Leu3089=
XM_024450298.1:c.12307T>C	XP_024306066.1:p.Leu4103=
XM_024450299.1:c.12235T>C	XP_024306067.1:p.Leu4079=
XM_024450300.1:c.12097T>C	XP_024306068.1:p.Leu4033=
XM_024450301.1:c.10183T>C	XP_024306069.1:p.Leu3395=
NM_000296.4:c.12184T>C	NP_000287.4:p.Leu4062=
NM_001009944.3:c.12187T>C MANE Select	NP_001009944.3:p.Leu4063=