Canonical Allele Identifier: CA394371132

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106638-G-T
• MyVariant Identifiers: chr16:g.2156639G>T (hg19) ; chr16:g.2106638G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106638G>T , CM000678.2:g.2106638G>T	GRCh38
NC_000016.9:g.2156639G>T , CM000678.1:g.2156639G>T	GRCh37
NC_000016.8:g.2096640G>T	NCBI36
NG_008617.1:g.34261C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7249C>A MANE Select	ENSP00000262304.4:p.Leu2417Met
ENST00000262304.8:c.7249C>A	ENSP00000262304.4:p.Leu2417Met
ENST00000415938.7:n.494C>A
ENST00000423118.5:c.7249C>A	ENSP00000399501.1:p.Leu2417Met
ENST00000483024.1:c.417C>A
ENST00000483558.5:n.308C>A
ENST00000483731.5:n.974C>A
ENST00000486339.6:n.995C>A
ENST00000487932.5:c.1936C>A	ENSP00000457132.1:p.Leu646Met
ENST00000496574.6:n.1252C>A
ENST00000565639.6:n.957C>A
ENST00000568591.5:c.2410C>A	ENSP00000457162.1:n.2410C>A
ENST00000569983.5:n.605C>A
NM_000296.3:c.7249C>A	NP_000287.3:p.Leu2417Met
NM_001009944.2:c.7249C>A	NP_001009944.2:p.Leu2417Met
XM_005255370.2:c.4204C>A	XP_005255427.1:p.Leu1402Met
XM_011522525.1:c.7327C>A	XP_011520827.1:p.Leu2443Met
XM_011522526.1:c.7327C>A	XP_011520828.1:p.Leu2443Met
XM_011522527.1:c.7327C>A	XP_011520829.1:p.Leu2443Met
XM_011522528.1:c.7303C>A	XP_011520830.1:p.Leu2435Met
XM_011522529.1:c.7303C>A	XP_011520831.1:p.Leu2435Met
XM_011522530.1:c.7273C>A	XP_011520832.1:p.Leu2425Met
XM_011522531.1:c.7255C>A	XP_011520833.1:p.Leu2419Met
XM_011522532.1:c.7201C>A	XP_011520834.1:p.Leu2401Met
XM_011522533.1:c.7120C>A	XP_011520835.1:p.Leu2374Met
XM_011522534.1:c.7063C>A	XP_011520836.1:p.Leu2355Met
XM_011522535.1:c.5149C>A	XP_011520837.1:p.Leu1717Met
XM_011522536.1:c.7327C>A	XP_011520838.1:p.Leu2443Met
XM_011522537.1:c.4327C>A	XP_011520839.1:p.Leu1443Met
XR_932867.1:n.7342C>A
XR_932868.1:n.7342C>A
XR_932869.1:n.7342C>A
XR_932870.1:n.7342C>A
XM_005255370.3:c.4204C>A	XP_005255427.1:p.Leu1402Met
XM_011522528.3:c.7303C>A	XP_011520830.1:p.Leu2435Met
XM_011522529.2:c.7303C>A	XP_011520831.1:p.Leu2435Met
XM_011522537.2:c.4327C>A	XP_011520839.1:p.Leu1443Met
XM_024450298.1:c.7369C>A	XP_024306066.1:p.Leu2457Met
XM_024450299.1:c.7297C>A	XP_024306067.1:p.Leu2433Met
XM_024450300.1:c.7159C>A	XP_024306068.1:p.Leu2387Met
XM_024450301.1:c.5245C>A	XP_024306069.1:p.Leu1749Met
NM_000296.4:c.7249C>A	NP_000287.4:p.Leu2417Met
NM_001009944.3:c.7249C>A MANE Select	NP_001009944.3:p.Leu2417Met