Canonical Allele Identifier: CA559295632

Gene: CPLANE1

Linked Data

• dbSNP Id: rs1381218328
• gnomAD v2: 5-37227405-GA-G
• gnomAD v4: 5-37227303-GA-G
• MyVariant Identifiers: chr5:g.37227406del (hg19) ; chr5:g.37227304del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37227306del , CM000667.2:g.37227306del	GRCh38
NC_000005.9:g.37227408del , CM000667.1:g.37227408del	GRCh37
NC_000005.8:g.37263165del	NCBI36
NG_032772.1:g.27125del
NG_032772.2:g.27125del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425232.7:c.1193del
ENST00000651892.2:c.1460del MANE Select	ENSP00000498265.2:p.Phe487SerfsTer13
ENST00000675547.1:n.1530del
ENST00000676290.1:n.1535del
ENST00000425232.6:c.1460del	ENSP00000389014.2:p.Phe487SerfsTer13
ENST00000508244.5:c.1460del	ENSP00000421690.1:p.Phe487SerfsTer13
NM_023073.3:c.1460del	NP_075561.3:p.Phe487SerfsTer13
XM_005248345.2:c.1460del	XP_005248402.1:p.Phe487SerfsTer13
XM_005248346.2:c.1460del	XP_005248403.1:p.Phe487SerfsTer13
XM_005248347.2:c.1460del	XP_005248404.1:p.Phe487SerfsTer13
XM_005248349.2:c.1460del	XP_005248406.1:p.Phe487SerfsTer13
XM_005248350.2:c.1460del	XP_005248407.1:p.Phe487SerfsTer13
XM_006714489.2:c.1460del	XP_006714552.1:p.Phe487SerfsTer13
XM_011514085.1:c.1460del	XP_011512387.1:p.Phe487SerfsTer13
XM_011514086.1:c.1460del	XP_011512388.1:p.Phe487SerfsTer13
XM_011514087.1:c.1460del	XP_011512389.1:p.Phe487SerfsTer13
XM_011514088.1:c.1460del	XP_011512390.1:p.Phe487SerfsTer13
XM_011514089.1:c.1460del	XP_011512391.1:p.Phe487SerfsTer13
XM_011514090.1:c.1142del	XP_011512392.1:p.Phe381SerfsTer13
XM_011514091.1:c.788del	XP_011512393.1:p.Phe263SerfsTer13
XM_011514092.1:c.1460del	XP_011512394.1:p.Phe487SerfsTer13
XM_011514093.1:c.1460del	XP_011512395.1:p.Phe487SerfsTer13
XR_427661.2:n.1635del
XR_925644.1:n.1635del
XM_005248345.4:c.1460del	XP_005248402.1:p.Phe487SerfsTer13
XM_005248346.4:c.1460del	XP_005248403.1:p.Phe487SerfsTer13
XM_005248347.4:c.1460del	XP_005248404.1:p.Phe487SerfsTer13
XM_005248349.4:c.1460del	XP_005248406.1:p.Phe487SerfsTer13
XM_005248350.4:c.1460del	XP_005248407.1:p.Phe487SerfsTer13
XM_011514085.3:c.1460del	XP_011512387.1:p.Phe487SerfsTer13
XM_011514086.3:c.1460del	XP_011512388.1:p.Phe487SerfsTer13
XM_011514087.2:c.1460del	XP_011512389.1:p.Phe487SerfsTer13
XM_011514088.2:c.1460del	XP_011512390.1:p.Phe487SerfsTer13
XM_011514089.2:c.1460del	XP_011512391.1:p.Phe487SerfsTer13
XM_011514090.3:c.1142del	XP_011512392.1:p.Phe381SerfsTer13
XM_011514092.2:c.1460del	XP_011512394.1:p.Phe487SerfsTer13
XM_017009760.1:c.1271del	XP_016865249.1:p.Phe424SerfsTer13
XM_017009761.2:c.1271del	XP_016865250.1:p.Phe424SerfsTer13
XM_017009763.1:c.467del	XP_016865252.1:p.Phe156SerfsTer13
XM_017009765.1:c.272del	XP_016865254.1:p.Phe91SerfsTer13
XM_024446183.1:c.1271del	XP_024301951.1:p.Phe424SerfsTer13
XM_024446184.1:c.1142del	XP_024301952.1:p.Phe381SerfsTer13
XM_024446185.1:c.788del	XP_024301953.1:p.Phe263SerfsTer13
XM_024446186.1:c.467del	XP_024301954.1:p.Phe156SerfsTer13
XR_001742208.1:n.1684del
XR_002956171.1:n.1684del
XR_925644.2:n.1684del
NM_001384732.1:c.1460del MANE Select	NP_001371661.1:p.Phe487SerfsTer13
NM_023073.4:c.1460del	NP_075561.3:p.Phe487SerfsTer13