Canonical Allele Identifier: CA394326293

Gene: PKD1

Linked Data

• dbSNP Id: rs1164201638
• gnomAD v2: 16-2140518-A-G
• gnomAD v4: 16-2090517-A-G
• MyVariant Identifiers: chr16:g.2140518A>G (hg19) ; chr16:g.2090517A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090517A>G , CM000678.2:g.2090517A>G	GRCh38
NC_000016.9:g.2140518A>G , CM000678.1:g.2140518A>G	GRCh37
NC_000016.8:g.2080519A>G	NCBI36
NG_005895.1:g.46212A>G , LRG_487:g.46212A>G
NG_008617.1:g.52704T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12212T>C MANE Select	ENSP00000262304.4:p.Leu4071Pro
ENST00000262304.8:c.12212T>C	ENSP00000262304.4:p.Leu4071Pro
ENST00000423118.5:c.12209T>C	ENSP00000399501.1:p.Leu4070Pro
ENST00000472577.1:n.240T>C
NM_000296.3:c.12209T>C	NP_000287.3:p.Leu4070Pro
NM_001009944.2:c.12212T>C	NP_001009944.2:p.Leu4071Pro
XM_005255370.2:c.9167T>C	XP_005255427.1:p.Leu3056Pro
XM_011522525.1:c.12290T>C	XP_011520827.1:p.Leu4097Pro
XM_011522526.1:c.12287T>C	XP_011520828.1:p.Leu4096Pro
XM_011522527.1:c.12272T>C	XP_011520829.1:p.Leu4091Pro
XM_011522528.1:c.12266T>C	XP_011520830.1:p.Leu4089Pro
XM_011522529.1:c.12263T>C	XP_011520831.1:p.Leu4088Pro
XM_011522530.1:c.12236T>C	XP_011520832.1:p.Leu4079Pro
XM_011522531.1:c.12218T>C	XP_011520833.1:p.Leu4073Pro
XM_011522532.1:c.12164T>C	XP_011520834.1:p.Leu4055Pro
XM_011522533.1:c.12083T>C	XP_011520835.1:p.Leu4028Pro
XM_011522534.1:c.12026T>C	XP_011520836.1:p.Leu4009Pro
XM_011522535.1:c.10112T>C	XP_011520837.1:p.Leu3371Pro
XM_011522537.1:c.9290T>C	XP_011520839.1:p.Leu3097Pro
XR_932867.1:n.12130T>C
XM_005255370.3:c.9167T>C	XP_005255427.1:p.Leu3056Pro
XM_011522528.3:c.12266T>C	XP_011520830.1:p.Leu4089Pro
XM_011522529.2:c.12263T>C	XP_011520831.1:p.Leu4088Pro
XM_011522537.2:c.9290T>C	XP_011520839.1:p.Leu3097Pro
XM_024450298.1:c.12332T>C	XP_024306066.1:p.Leu4111Pro
XM_024450299.1:c.12260T>C	XP_024306067.1:p.Leu4087Pro
XM_024450300.1:c.12122T>C	XP_024306068.1:p.Leu4041Pro
XM_024450301.1:c.10208T>C	XP_024306069.1:p.Leu3403Pro
NM_000296.4:c.12209T>C	NP_000287.4:p.Leu4070Pro
NM_001009944.3:c.12212T>C MANE Select	NP_001009944.3:p.Leu4071Pro