Canonical Allele Identifier: CA394325554

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140423C>A (hg19) ; chr16:g.2090422C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090422C>A , CM000678.2:g.2090422C>A	GRCh38
NC_000016.9:g.2140423C>A , CM000678.1:g.2140423C>A	GRCh37
NC_000016.8:g.2080424C>A	NCBI36
NG_005895.1:g.46117C>A , LRG_487:g.46117C>A
NG_008617.1:g.52799G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12307G>T MANE Select	ENSP00000262304.4:p.Ala4103Ser
ENST00000262304.8:c.12307G>T	ENSP00000262304.4:p.Ala4103Ser
ENST00000423118.5:c.12304G>T	ENSP00000399501.1:p.Ala4102Ser
ENST00000472577.1:n.335G>T
NM_000296.3:c.12304G>T	NP_000287.3:p.Ala4102Ser
NM_001009944.2:c.12307G>T	NP_001009944.2:p.Ala4103Ser
XM_005255370.2:c.9262G>T	XP_005255427.1:p.Ala3088Ser
XM_011522525.1:c.12385G>T	XP_011520827.1:p.Ala4129Ser
XM_011522526.1:c.12382G>T	XP_011520828.1:p.Ala4128Ser
XM_011522527.1:c.12367G>T	XP_011520829.1:p.Ala4123Ser
XM_011522528.1:c.12361G>T	XP_011520830.1:p.Ala4121Ser
XM_011522529.1:c.12358G>T	XP_011520831.1:p.Ala4120Ser
XM_011522530.1:c.12331G>T	XP_011520832.1:p.Ala4111Ser
XM_011522531.1:c.12313G>T	XP_011520833.1:p.Ala4105Ser
XM_011522532.1:c.12259G>T	XP_011520834.1:p.Ala4087Ser
XM_011522533.1:c.12178G>T	XP_011520835.1:p.Ala4060Ser
XM_011522534.1:c.12121G>T	XP_011520836.1:p.Ala4041Ser
XM_011522535.1:c.10207G>T	XP_011520837.1:p.Ala3403Ser
XM_011522537.1:c.9385G>T	XP_011520839.1:p.Ala3129Ser
XR_932867.1:n.12225G>T
XM_005255370.3:c.9262G>T	XP_005255427.1:p.Ala3088Ser
XM_011522528.3:c.12361G>T	XP_011520830.1:p.Ala4121Ser
XM_011522529.2:c.12358G>T	XP_011520831.1:p.Ala4120Ser
XM_011522537.2:c.9385G>T	XP_011520839.1:p.Ala3129Ser
XM_024450298.1:c.12427G>T	XP_024306066.1:p.Ala4143Ser
XM_024450299.1:c.12355G>T	XP_024306067.1:p.Ala4119Ser
XM_024450300.1:c.12217G>T	XP_024306068.1:p.Ala4073Ser
XM_024450301.1:c.10303G>T	XP_024306069.1:p.Ala3435Ser
NM_000296.4:c.12304G>T	NP_000287.4:p.Ala4102Ser
NM_001009944.3:c.12307G>T MANE Select	NP_001009944.3:p.Ala4103Ser