Canonical Allele Identifier: CA493044386

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140421A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090420A>C , CM000678.2:g.2090420A>C	GRCh38
NC_000016.9:g.2140421A>C , CM000678.1:g.2140421A>C	GRCh37
NC_000016.8:g.2080422A>C	NCBI36
NG_005895.1:g.46115A>C , LRG_487:g.46115A>C
NG_008617.1:g.52801T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12309T>G MANE Select	ENSP00000262304.4:p.Ala4103=
ENST00000262304.8:c.12309T>G	ENSP00000262304.4:p.Ala4103=
ENST00000423118.5:c.12306T>G	ENSP00000399501.1:p.Ala4102=
ENST00000472577.1:n.337T>G
NM_000296.3:c.12306T>G	NP_000287.3:p.Ala4102=
NM_001009944.2:c.12309T>G	NP_001009944.2:p.Ala4103=
XM_005255370.2:c.9264T>G	XP_005255427.1:p.Ala3088=
XM_011522525.1:c.12387T>G	XP_011520827.1:p.Ala4129=
XM_011522526.1:c.12384T>G	XP_011520828.1:p.Ala4128=
XM_011522527.1:c.12369T>G	XP_011520829.1:p.Ala4123=
XM_011522528.1:c.12363T>G	XP_011520830.1:p.Ala4121=
XM_011522529.1:c.12360T>G	XP_011520831.1:p.Ala4120=
XM_011522530.1:c.12333T>G	XP_011520832.1:p.Ala4111=
XM_011522531.1:c.12315T>G	XP_011520833.1:p.Ala4105=
XM_011522532.1:c.12261T>G	XP_011520834.1:p.Ala4087=
XM_011522533.1:c.12180T>G	XP_011520835.1:p.Ala4060=
XM_011522534.1:c.12123T>G	XP_011520836.1:p.Ala4041=
XM_011522535.1:c.10209T>G	XP_011520837.1:p.Ala3403=
XM_011522537.1:c.9387T>G	XP_011520839.1:p.Ala3129=
XR_932867.1:n.12227T>G
XM_005255370.3:c.9264T>G	XP_005255427.1:p.Ala3088=
XM_011522528.3:c.12363T>G	XP_011520830.1:p.Ala4121=
XM_011522529.2:c.12360T>G	XP_011520831.1:p.Ala4120=
XM_011522537.2:c.9387T>G	XP_011520839.1:p.Ala3129=
XM_024450298.1:c.12429T>G	XP_024306066.1:p.Ala4143=
XM_024450299.1:c.12357T>G	XP_024306067.1:p.Ala4119=
XM_024450300.1:c.12219T>G	XP_024306068.1:p.Ala4073=
XM_024450301.1:c.10305T>G	XP_024306069.1:p.Ala3435=
NM_000296.4:c.12306T>G	NP_000287.4:p.Ala4102=
NM_001009944.3:c.12309T>G MANE Select	NP_001009944.3:p.Ala4103=