Canonical Allele Identifier: CA394325169

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140378A>T (hg19) ; chr16:g.2090377A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090377A>T , CM000678.2:g.2090377A>T	GRCh38
NC_000016.9:g.2140378A>T , CM000678.1:g.2140378A>T	GRCh37
NC_000016.8:g.2080379A>T	NCBI36
NG_005895.1:g.46072A>T , LRG_487:g.46072A>T
NG_008617.1:g.52844T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12352T>A MANE Select	ENSP00000262304.4:p.Tyr4118Asn
ENST00000262304.8:c.12352T>A	ENSP00000262304.4:p.Tyr4118Asn
ENST00000423118.5:c.12349T>A	ENSP00000399501.1:p.Tyr4117Asn
ENST00000472577.1:n.380T>A
NM_000296.3:c.12349T>A	NP_000287.3:p.Tyr4117Asn
NM_001009944.2:c.12352T>A	NP_001009944.2:p.Tyr4118Asn
XM_005255370.2:c.9307T>A	XP_005255427.1:p.Tyr3103Asn
XM_011522525.1:c.12430T>A	XP_011520827.1:p.Tyr4144Asn
XM_011522526.1:c.12427T>A	XP_011520828.1:p.Tyr4143Asn
XM_011522527.1:c.12412T>A	XP_011520829.1:p.Tyr4138Asn
XM_011522528.1:c.12406T>A	XP_011520830.1:p.Tyr4136Asn
XM_011522529.1:c.12403T>A	XP_011520831.1:p.Tyr4135Asn
XM_011522530.1:c.12376T>A	XP_011520832.1:p.Tyr4126Asn
XM_011522531.1:c.12358T>A	XP_011520833.1:p.Tyr4120Asn
XM_011522532.1:c.12304T>A	XP_011520834.1:p.Tyr4102Asn
XM_011522533.1:c.12223T>A	XP_011520835.1:p.Tyr4075Asn
XM_011522534.1:c.12166T>A	XP_011520836.1:p.Tyr4056Asn
XM_011522535.1:c.10252T>A	XP_011520837.1:p.Tyr3418Asn
XM_011522537.1:c.9430T>A	XP_011520839.1:p.Tyr3144Asn
XR_932867.1:n.12270T>A
XM_005255370.3:c.9307T>A	XP_005255427.1:p.Tyr3103Asn
XM_011522528.3:c.12406T>A	XP_011520830.1:p.Tyr4136Asn
XM_011522529.2:c.12403T>A	XP_011520831.1:p.Tyr4135Asn
XM_011522537.2:c.9430T>A	XP_011520839.1:p.Tyr3144Asn
XM_024450298.1:c.12472T>A	XP_024306066.1:p.Tyr4158Asn
XM_024450299.1:c.12400T>A	XP_024306067.1:p.Tyr4134Asn
XM_024450300.1:c.12262T>A	XP_024306068.1:p.Tyr4088Asn
XM_024450301.1:c.10348T>A	XP_024306069.1:p.Tyr3450Asn
NM_000296.4:c.12349T>A	NP_000287.4:p.Tyr4117Asn
NM_001009944.3:c.12352T>A MANE Select	NP_001009944.3:p.Tyr4118Asn