Canonical Allele Identifier: CA2673591227
Gene: CPLANE1 HGNC NCBI
CPLANE1-AS1 HGNC NCBI

Linked Data

gnomAD v4: 5-37249388-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37249388G>T , CM000667.2:g.37249388G>T GRCh38
NC_000005.9:g.37249490G>T , CM000667.1:g.37249490G>T GRCh37
NC_000005.8:g.37285247G>T NCBI36
NG_032772.1:g.5041C>A
NG_032772.2:g.5041C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000425232.6:c.-191C>A (CPLANE1) ENSP00000389014.2:n.-191C>A
NM_023073.3:c.-191C>A (CPLANE1) NP_075561.3:n.-191C>A
XR_925921.1:n.171+167G>T (CPLANE1-AS1)
NR_134263.1:n.176+167G>T (CPLANE1-AS1)
XM_005248345.4:c.-191C>A (CPLANE1) XP_005248402.1:n.-191C>A
XM_005248346.4:c.-191C>A (CPLANE1) XP_005248403.1:n.-191C>A
XM_005248347.4:c.-191C>A (CPLANE1) XP_005248404.1:n.-191C>A
XM_005248349.4:c.-191C>A (CPLANE1) XP_005248406.1:n.-191C>A
XM_005248350.4:c.-191C>A (CPLANE1) XP_005248407.1:n.-191C>A
XM_011514086.3:c.-234C>A (CPLANE1) XP_011512388.1:n.-234C>A
XM_011514087.2:c.-191C>A (CPLANE1) XP_011512389.1:n.-191C>A
XM_011514088.2:c.-191C>A (CPLANE1) XP_011512390.1:n.-191C>A
XM_011514089.2:c.-191C>A (CPLANE1) XP_011512391.1:n.-191C>A
XM_011514090.3:c.-428C>A (CPLANE1) XP_011512392.1:n.-428C>A
XM_011514092.2:c.-191C>A (CPLANE1) XP_011512394.1:n.-191C>A
XM_017009761.2:c.-163C>A (CPLANE1) XP_016865250.1:n.-163C>A
XM_024446184.1:c.-471C>A (CPLANE1) XP_024301952.1:n.-471C>A
XM_024446185.1:c.-718C>A (CPLANE1) XP_024301953.1:n.-718C>A
XM_024446186.1:c.-1189C>A (CPLANE1) XP_024301954.1:n.-1189C>A
XR_001742208.1:n.34C>A (CPLANE1)
XR_002956171.1:n.34C>A (CPLANE1)
XR_925644.2:n.34C>A (CPLANE1)