Canonical Allele Identifier: CA394371187

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106651-G-C
• MyVariant Identifiers: chr16:g.2156652G>C (hg19) ; chr16:g.2106651G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106651G>C , CM000678.2:g.2106651G>C	GRCh38
NC_000016.9:g.2156652G>C , CM000678.1:g.2156652G>C	GRCh37
NC_000016.8:g.2096653G>C	NCBI36
NG_008617.1:g.34248C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7236C>G MANE Select	ENSP00000262304.4:p.Asn2412Lys
ENST00000262304.8:c.7236C>G	ENSP00000262304.4:p.Asn2412Lys
ENST00000415938.7:n.481C>G
ENST00000423118.5:c.7236C>G	ENSP00000399501.1:p.Asn2412Lys
ENST00000483024.1:c.404C>G
ENST00000483558.5:n.295C>G
ENST00000483731.5:n.961C>G
ENST00000486339.6:n.982C>G
ENST00000487932.5:c.1923C>G	ENSP00000457132.1:p.Asn641Lys
ENST00000496574.6:n.1239C>G
ENST00000565639.6:n.944C>G
ENST00000568591.5:c.2397C>G	ENSP00000457162.1:n.2397C>G
ENST00000569983.5:n.592C>G
NM_000296.3:c.7236C>G	NP_000287.3:p.Asn2412Lys
NM_001009944.2:c.7236C>G	NP_001009944.2:p.Asn2412Lys
XM_005255370.2:c.4191C>G	XP_005255427.1:p.Asn1397Lys
XM_011522525.1:c.7314C>G	XP_011520827.1:p.Asn2438Lys
XM_011522526.1:c.7314C>G	XP_011520828.1:p.Asn2438Lys
XM_011522527.1:c.7314C>G	XP_011520829.1:p.Asn2438Lys
XM_011522528.1:c.7290C>G	XP_011520830.1:p.Asn2430Lys
XM_011522529.1:c.7290C>G	XP_011520831.1:p.Asn2430Lys
XM_011522530.1:c.7260C>G	XP_011520832.1:p.Asn2420Lys
XM_011522531.1:c.7242C>G	XP_011520833.1:p.Asn2414Lys
XM_011522532.1:c.7188C>G	XP_011520834.1:p.Asn2396Lys
XM_011522533.1:c.7107C>G	XP_011520835.1:p.Asn2369Lys
XM_011522534.1:c.7050C>G	XP_011520836.1:p.Asn2350Lys
XM_011522535.1:c.5136C>G	XP_011520837.1:p.Asn1712Lys
XM_011522536.1:c.7314C>G	XP_011520838.1:p.Asn2438Lys
XM_011522537.1:c.4314C>G	XP_011520839.1:p.Asn1438Lys
XR_932867.1:n.7329C>G
XR_932868.1:n.7329C>G
XR_932869.1:n.7329C>G
XR_932870.1:n.7329C>G
XM_005255370.3:c.4191C>G	XP_005255427.1:p.Asn1397Lys
XM_011522528.3:c.7290C>G	XP_011520830.1:p.Asn2430Lys
XM_011522529.2:c.7290C>G	XP_011520831.1:p.Asn2430Lys
XM_011522537.2:c.4314C>G	XP_011520839.1:p.Asn1438Lys
XM_024450298.1:c.7356C>G	XP_024306066.1:p.Asn2452Lys
XM_024450299.1:c.7284C>G	XP_024306067.1:p.Asn2428Lys
XM_024450300.1:c.7146C>G	XP_024306068.1:p.Asn2382Lys
XM_024450301.1:c.5232C>G	XP_024306069.1:p.Asn1744Lys
NM_000296.4:c.7236C>G	NP_000287.4:p.Asn2412Lys
NM_001009944.3:c.7236C>G MANE Select	NP_001009944.3:p.Asn2412Lys