Canonical Allele Identifier: CA493044434

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140436G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090435G>C , CM000678.2:g.2090435G>C	GRCh38
NC_000016.9:g.2140436G>C , CM000678.1:g.2140436G>C	GRCh37
NC_000016.8:g.2080437G>C	NCBI36
NG_005895.1:g.46130G>C , LRG_487:g.46130G>C
NG_008617.1:g.52786C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12294C>G MANE Select	ENSP00000262304.4:p.Ala4098=
ENST00000262304.8:c.12294C>G	ENSP00000262304.4:p.Ala4098=
ENST00000423118.5:c.12291C>G	ENSP00000399501.1:p.Ala4097=
ENST00000472577.1:n.322C>G
NM_000296.3:c.12291C>G	NP_000287.3:p.Ala4097=
NM_001009944.2:c.12294C>G	NP_001009944.2:p.Ala4098=
XM_005255370.2:c.9249C>G	XP_005255427.1:p.Ala3083=
XM_011522525.1:c.12372C>G	XP_011520827.1:p.Ala4124=
XM_011522526.1:c.12369C>G	XP_011520828.1:p.Ala4123=
XM_011522527.1:c.12354C>G	XP_011520829.1:p.Ala4118=
XM_011522528.1:c.12348C>G	XP_011520830.1:p.Ala4116=
XM_011522529.1:c.12345C>G	XP_011520831.1:p.Ala4115=
XM_011522530.1:c.12318C>G	XP_011520832.1:p.Ala4106=
XM_011522531.1:c.12300C>G	XP_011520833.1:p.Ala4100=
XM_011522532.1:c.12246C>G	XP_011520834.1:p.Ala4082=
XM_011522533.1:c.12165C>G	XP_011520835.1:p.Ala4055=
XM_011522534.1:c.12108C>G	XP_011520836.1:p.Ala4036=
XM_011522535.1:c.10194C>G	XP_011520837.1:p.Ala3398=
XM_011522537.1:c.9372C>G	XP_011520839.1:p.Ala3124=
XR_932867.1:n.12212C>G
XM_005255370.3:c.9249C>G	XP_005255427.1:p.Ala3083=
XM_011522528.3:c.12348C>G	XP_011520830.1:p.Ala4116=
XM_011522529.2:c.12345C>G	XP_011520831.1:p.Ala4115=
XM_011522537.2:c.9372C>G	XP_011520839.1:p.Ala3124=
XM_024450298.1:c.12414C>G	XP_024306066.1:p.Ala4138=
XM_024450299.1:c.12342C>G	XP_024306067.1:p.Ala4114=
XM_024450300.1:c.12204C>G	XP_024306068.1:p.Ala4068=
XM_024450301.1:c.10290C>G	XP_024306069.1:p.Ala3430=
NM_000296.4:c.12291C>G	NP_000287.4:p.Ala4097=
NM_001009944.3:c.12294C>G MANE Select	NP_001009944.3:p.Ala4098=