Canonical Allele Identifier: CA394324873

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140343C>A (hg19) ; chr16:g.2090342C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090342C>A , CM000678.2:g.2090342C>A	GRCh38
NC_000016.9:g.2140343C>A , CM000678.1:g.2140343C>A	GRCh37
NC_000016.8:g.2080344C>A	NCBI36
NG_005895.1:g.46037C>A , LRG_487:g.46037C>A
NG_008617.1:g.52879G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.12387G>T MANE Select	ENSP00000262304.4:p.Met4129Ile
ENST00000262304.8:c.12387G>T	ENSP00000262304.4:p.Met4129Ile
ENST00000423118.5:c.12384G>T	ENSP00000399501.1:p.Met4128Ile
ENST00000472577.1:n.415G>T
NM_000296.3:c.12384G>T	NP_000287.3:p.Met4128Ile
NM_001009944.2:c.12387G>T	NP_001009944.2:p.Met4129Ile
XM_005255370.2:c.9342G>T	XP_005255427.1:p.Met3114Ile
XM_011522525.1:c.12465G>T	XP_011520827.1:p.Met4155Ile
XM_011522526.1:c.12462G>T	XP_011520828.1:p.Met4154Ile
XM_011522527.1:c.12447G>T	XP_011520829.1:p.Met4149Ile
XM_011522528.1:c.12441G>T	XP_011520830.1:p.Met4147Ile
XM_011522529.1:c.12438G>T	XP_011520831.1:p.Met4146Ile
XM_011522530.1:c.12411G>T	XP_011520832.1:p.Met4137Ile
XM_011522531.1:c.12393G>T	XP_011520833.1:p.Met4131Ile
XM_011522532.1:c.12339G>T	XP_011520834.1:p.Met4113Ile
XM_011522533.1:c.12258G>T	XP_011520835.1:p.Met4086Ile
XM_011522534.1:c.12201G>T	XP_011520836.1:p.Met4067Ile
XM_011522535.1:c.10287G>T	XP_011520837.1:p.Met3429Ile
XM_011522537.1:c.9465G>T	XP_011520839.1:p.Met3155Ile
XR_932867.1:n.12305G>T
XM_005255370.3:c.9342G>T	XP_005255427.1:p.Met3114Ile
XM_011522528.3:c.12441G>T	XP_011520830.1:p.Met4147Ile
XM_011522529.2:c.12438G>T	XP_011520831.1:p.Met4146Ile
XM_011522537.2:c.9465G>T	XP_011520839.1:p.Met3155Ile
XM_024450298.1:c.12507G>T	XP_024306066.1:p.Met4169Ile
XM_024450299.1:c.12435G>T	XP_024306067.1:p.Met4145Ile
XM_024450300.1:c.12297G>T	XP_024306068.1:p.Met4099Ile
XM_024450301.1:c.10383G>T	XP_024306069.1:p.Met3461Ile
NM_000296.4:c.12384G>T	NP_000287.4:p.Met4128Ile
NM_001009944.3:c.12387G>T MANE Select	NP_001009944.3:p.Met4129Ile