Canonical Allele Identifier: CA7828718

Gene: PKD1

Linked Data

• dbSNP Id: rs150724260
• ExAC: 16:2140512 G / A
• gnomAD v2: 16-2140512-G-A
• gnomAD v3: 16-2090511-G-A
• gnomAD v4: 16-2090511-G-A
• MyVariant Identifiers: chr16:g.2140512G>A (hg19) ; chr16:g.2090511G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090511G>A , CM000678.2:g.2090511G>A	GRCh38
NC_000016.9:g.2140512G>A , CM000678.1:g.2140512G>A	GRCh37
NC_000016.8:g.2080513G>A	NCBI36
NG_005895.1:g.46206G>A , LRG_487:g.46206G>A
NG_008617.1:g.52710C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12218C>T MANE Select	ENSP00000262304.4:p.Thr4073Ile
ENST00000262304.8:c.12218C>T	ENSP00000262304.4:p.Thr4073Ile
ENST00000423118.5:c.12215C>T	ENSP00000399501.1:p.Thr4072Ile
ENST00000472577.1:n.246C>T
NM_000296.3:c.12215C>T	NP_000287.3:p.Thr4072Ile
NM_001009944.2:c.12218C>T	NP_001009944.2:p.Thr4073Ile
XM_005255370.2:c.9173C>T	XP_005255427.1:p.Thr3058Ile
XM_011522525.1:c.12296C>T	XP_011520827.1:p.Thr4099Ile
XM_011522526.1:c.12293C>T	XP_011520828.1:p.Thr4098Ile
XM_011522527.1:c.12278C>T	XP_011520829.1:p.Thr4093Ile
XM_011522528.1:c.12272C>T	XP_011520830.1:p.Thr4091Ile
XM_011522529.1:c.12269C>T	XP_011520831.1:p.Thr4090Ile
XM_011522530.1:c.12242C>T	XP_011520832.1:p.Thr4081Ile
XM_011522531.1:c.12224C>T	XP_011520833.1:p.Thr4075Ile
XM_011522532.1:c.12170C>T	XP_011520834.1:p.Thr4057Ile
XM_011522533.1:c.12089C>T	XP_011520835.1:p.Thr4030Ile
XM_011522534.1:c.12032C>T	XP_011520836.1:p.Thr4011Ile
XM_011522535.1:c.10118C>T	XP_011520837.1:p.Thr3373Ile
XM_011522537.1:c.9296C>T	XP_011520839.1:p.Thr3099Ile
XR_932867.1:n.12136C>T
XM_005255370.3:c.9173C>T	XP_005255427.1:p.Thr3058Ile
XM_011522528.3:c.12272C>T	XP_011520830.1:p.Thr4091Ile
XM_011522529.2:c.12269C>T	XP_011520831.1:p.Thr4090Ile
XM_011522537.2:c.9296C>T	XP_011520839.1:p.Thr3099Ile
XM_024450298.1:c.12338C>T	XP_024306066.1:p.Thr4113Ile
XM_024450299.1:c.12266C>T	XP_024306067.1:p.Thr4089Ile
XM_024450300.1:c.12128C>T	XP_024306068.1:p.Thr4043Ile
XM_024450301.1:c.10214C>T	XP_024306069.1:p.Thr3405Ile
NM_000296.4:c.12215C>T	NP_000287.4:p.Thr4072Ile
NM_001009944.3:c.12218C>T MANE Select	NP_001009944.3:p.Thr4073Ile