Canonical Allele Identifier: CA394371268

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106668-C-A
• MyVariant Identifiers: chr16:g.2156669C>A (hg19) ; chr16:g.2106668C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106668C>A , CM000678.2:g.2106668C>A	GRCh38
NC_000016.9:g.2156669C>A , CM000678.1:g.2156669C>A	GRCh37
NC_000016.8:g.2096670C>A	NCBI36
NG_008617.1:g.34231G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7219G>T MANE Select	ENSP00000262304.4:p.Ala2407Ser
ENST00000262304.8:c.7219G>T	ENSP00000262304.4:p.Ala2407Ser
ENST00000415938.7:n.464G>T
ENST00000423118.5:c.7219G>T	ENSP00000399501.1:p.Ala2407Ser
ENST00000483024.1:c.387G>T
ENST00000483558.5:n.278G>T
ENST00000483731.5:n.944G>T
ENST00000486339.6:n.965G>T
ENST00000487932.5:c.1906G>T	ENSP00000457132.1:p.Ala636Ser
ENST00000496574.6:n.1222G>T
ENST00000565639.6:n.927G>T
ENST00000568591.5:c.2380G>T	ENSP00000457162.1:n.2380G>T
ENST00000569983.5:n.575G>T
NM_000296.3:c.7219G>T	NP_000287.3:p.Ala2407Ser
NM_001009944.2:c.7219G>T	NP_001009944.2:p.Ala2407Ser
XM_005255370.2:c.4174G>T	XP_005255427.1:p.Ala1392Ser
XM_011522525.1:c.7297G>T	XP_011520827.1:p.Ala2433Ser
XM_011522526.1:c.7297G>T	XP_011520828.1:p.Ala2433Ser
XM_011522527.1:c.7297G>T	XP_011520829.1:p.Ala2433Ser
XM_011522528.1:c.7273G>T	XP_011520830.1:p.Ala2425Ser
XM_011522529.1:c.7273G>T	XP_011520831.1:p.Ala2425Ser
XM_011522530.1:c.7243G>T	XP_011520832.1:p.Ala2415Ser
XM_011522531.1:c.7225G>T	XP_011520833.1:p.Ala2409Ser
XM_011522532.1:c.7171G>T	XP_011520834.1:p.Ala2391Ser
XM_011522533.1:c.7090G>T	XP_011520835.1:p.Ala2364Ser
XM_011522534.1:c.7033G>T	XP_011520836.1:p.Ala2345Ser
XM_011522535.1:c.5119G>T	XP_011520837.1:p.Ala1707Ser
XM_011522536.1:c.7297G>T	XP_011520838.1:p.Ala2433Ser
XM_011522537.1:c.4297G>T	XP_011520839.1:p.Ala1433Ser
XR_932867.1:n.7312G>T
XR_932868.1:n.7312G>T
XR_932869.1:n.7312G>T
XR_932870.1:n.7312G>T
XM_005255370.3:c.4174G>T	XP_005255427.1:p.Ala1392Ser
XM_011522528.3:c.7273G>T	XP_011520830.1:p.Ala2425Ser
XM_011522529.2:c.7273G>T	XP_011520831.1:p.Ala2425Ser
XM_011522537.2:c.4297G>T	XP_011520839.1:p.Ala1433Ser
XM_024450298.1:c.7339G>T	XP_024306066.1:p.Ala2447Ser
XM_024450299.1:c.7267G>T	XP_024306067.1:p.Ala2423Ser
XM_024450300.1:c.7129G>T	XP_024306068.1:p.Ala2377Ser
XM_024450301.1:c.5215G>T	XP_024306069.1:p.Ala1739Ser
NM_000296.4:c.7219G>T	NP_000287.4:p.Ala2407Ser
NM_001009944.3:c.7219G>T MANE Select	NP_001009944.3:p.Ala2407Ser