Canonical Allele Identifier: CA394325331

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140397G>T (hg19) ; chr16:g.2090396G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090396G>T , CM000678.2:g.2090396G>T	GRCh38
NC_000016.9:g.2140397G>T , CM000678.1:g.2140397G>T	GRCh37
NC_000016.8:g.2080398G>T	NCBI36
NG_005895.1:g.46091G>T , LRG_487:g.46091G>T
NG_008617.1:g.52825C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12333C>A MANE Select	ENSP00000262304.4:p.His4111Gln
ENST00000262304.8:c.12333C>A	ENSP00000262304.4:p.His4111Gln
ENST00000423118.5:c.12330C>A	ENSP00000399501.1:p.His4110Gln
ENST00000472577.1:n.361C>A
NM_000296.3:c.12330C>A	NP_000287.3:p.His4110Gln
NM_001009944.2:c.12333C>A	NP_001009944.2:p.His4111Gln
XM_005255370.2:c.9288C>A	XP_005255427.1:p.His3096Gln
XM_011522525.1:c.12411C>A	XP_011520827.1:p.His4137Gln
XM_011522526.1:c.12408C>A	XP_011520828.1:p.His4136Gln
XM_011522527.1:c.12393C>A	XP_011520829.1:p.His4131Gln
XM_011522528.1:c.12387C>A	XP_011520830.1:p.His4129Gln
XM_011522529.1:c.12384C>A	XP_011520831.1:p.His4128Gln
XM_011522530.1:c.12357C>A	XP_011520832.1:p.His4119Gln
XM_011522531.1:c.12339C>A	XP_011520833.1:p.His4113Gln
XM_011522532.1:c.12285C>A	XP_011520834.1:p.His4095Gln
XM_011522533.1:c.12204C>A	XP_011520835.1:p.His4068Gln
XM_011522534.1:c.12147C>A	XP_011520836.1:p.His4049Gln
XM_011522535.1:c.10233C>A	XP_011520837.1:p.His3411Gln
XM_011522537.1:c.9411C>A	XP_011520839.1:p.His3137Gln
XR_932867.1:n.12251C>A
XM_005255370.3:c.9288C>A	XP_005255427.1:p.His3096Gln
XM_011522528.3:c.12387C>A	XP_011520830.1:p.His4129Gln
XM_011522529.2:c.12384C>A	XP_011520831.1:p.His4128Gln
XM_011522537.2:c.9411C>A	XP_011520839.1:p.His3137Gln
XM_024450298.1:c.12453C>A	XP_024306066.1:p.His4151Gln
XM_024450299.1:c.12381C>A	XP_024306067.1:p.His4127Gln
XM_024450300.1:c.12243C>A	XP_024306068.1:p.His4081Gln
XM_024450301.1:c.10329C>A	XP_024306069.1:p.His3443Gln
NM_000296.4:c.12330C>A	NP_000287.4:p.His4110Gln
NM_001009944.3:c.12333C>A MANE Select	NP_001009944.3:p.His4111Gln