Canonical Allele Identifier: CA394362673
Community Standard Title: NM_001009944.3(PKD1):c.8603C>G (p.Ser2868Ter)
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2103454G>C , CM000678.2:g.2103454G>C GRCh38
NC_000016.9:g.2153455G>C , CM000678.1:g.2153455G>C GRCh37
NC_000016.8:g.2093456G>C NCBI36
NG_008617.1:g.39767C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.8603C>G MANE Select NP_001009944.3:p.Ser2868Ter
ENST00000262304.9:c.8603C>G MANE Select ENSP00000262304.4:p.Ser2868Ter
NM_000296.3:c.8603C>G NP_000287.3:p.Ser2868Ter
NM_000296.4:c.8603C>G NP_000287.4:p.Ser2868Ter
NM_001009944.2:c.8603C>G NP_001009944.2:p.Ser2868Ter
ENST00000262304.8:c.8603C>G ENSP00000262304.4:p.Ser2868Ter
ENST00000415938.7:n.1848C>G
ENST00000423118.5:c.8603C>G ENSP00000399501.1:p.Ser2868Ter
ENST00000471603.6:n.234C>G
ENST00000475889.1:n.78C>G
ENST00000480227.5:n.340C>G
ENST00000483731.5:n.2328C>G
ENST00000486339.6:n.2739C>G
ENST00000487932.5:c.3228+62C>G ENSP00000457132.1:n.3228+62C>G
ENST00000496574.6:n.2839C>G
ENST00000562297.5:n.336C>G
ENST00000567946.1:c.393+271C>G
XM_005255370.2:c.5558C>G XP_005255427.1:p.Ser1853Ter
XM_005255370.3:c.5558C>G XP_005255427.1:p.Ser1853Ter
XM_011522525.1:c.8681C>G XP_011520827.1:p.Ser2894Ter
XM_011522526.1:c.8681C>G XP_011520828.1:p.Ser2894Ter
XM_011522527.1:c.8681C>G XP_011520829.1:p.Ser2894Ter
XM_011522528.1:c.8657C>G XP_011520830.1:p.Ser2886Ter
XM_011522528.3:c.8657C>G XP_011520830.1:p.Ser2886Ter
XM_011522529.1:c.8657C>G XP_011520831.1:p.Ser2886Ter
XM_011522529.2:c.8657C>G XP_011520831.1:p.Ser2886Ter
XM_011522530.1:c.8627C>G XP_011520832.1:p.Ser2876Ter
XM_011522531.1:c.8609C>G XP_011520833.1:p.Ser2870Ter
XM_011522532.1:c.8555C>G XP_011520834.1:p.Ser2852Ter
XM_011522533.1:c.8474C>G XP_011520835.1:p.Ser2825Ter
XM_011522534.1:c.8417C>G XP_011520836.1:p.Ser2806Ter
XM_011522535.1:c.6503C>G XP_011520837.1:p.Ser2168Ter
XM_011522536.1:c.8681C>G XP_011520838.1:p.Ser2894Ter
XM_011522537.1:c.5681C>G XP_011520839.1:p.Ser1894Ter
XM_011522537.2:c.5681C>G XP_011520839.1:p.Ser1894Ter
XM_024450298.1:c.8723C>G XP_024306066.1:p.Ser2908Ter
XM_024450299.1:c.8651C>G XP_024306067.1:p.Ser2884Ter
XM_024450300.1:c.8513C>G XP_024306068.1:p.Ser2838Ter
XM_024450301.1:c.6599C>G XP_024306069.1:p.Ser2200Ter
XR_932867.1:n.8696C>G
XR_932868.1:n.8696C>G
XR_932869.1:n.8696C>G
XR_932870.1:n.8696C>G