Canonical Allele Identifier: CA359499203

Gene: CPLANE1

Linked Data

• dbSNP Id: rs1396778803
• gnomAD v2: 5-37125436-T-A
• gnomAD v4: 5-37125334-T-A
• MyVariant Identifiers: chr5:g.37125436T>A (hg19) ; chr5:g.37125334T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37125334T>A , CM000667.2:g.37125334T>A	GRCh38
NC_000005.9:g.37125436T>A , CM000667.1:g.37125436T>A	GRCh37
NC_000005.8:g.37161193T>A	NCBI36
NG_032772.1:g.129095A>T
NG_032772.2:g.129095A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000510830.2:n.1867A>T
ENST00000651892.2:c.8868A>T MANE Select	ENSP00000498265.2:p.Arg2956Ser
ENST00000676160.1:n.729A>T
ENST00000425232.6:c.8706A>T	ENSP00000389014.2:p.Arg2902Ser
ENST00000508244.5:c.8706A>T	ENSP00000421690.1:p.Arg2902Ser
ENST00000509849.5:c.5880A>T	ENSP00000426337.1:n.5880A>T
ENST00000509957.5:n.4049A>T
ENST00000512288.5:n.342-3550A>T
ENST00000514429.5:c.5904A>T	ENSP00000424223.1:p.Arg1968Ser
NM_023073.3:c.8706A>T	NP_075561.3:p.Arg2902Ser
XM_005248345.2:c.8868A>T	XP_005248402.1:p.Arg2956Ser
XM_005248346.2:c.8865A>T	XP_005248403.1:p.Arg2955Ser
XM_005248347.2:c.8865A>T	XP_005248404.1:p.Arg2955Ser
XM_005248349.2:c.8757A>T	XP_005248406.1:p.Arg2919Ser
XM_005248350.2:c.8739A>T	XP_005248407.1:p.Arg2913Ser
XM_005248353.3:c.5511A>T	XP_005248410.1:p.Arg1837Ser
XM_006714489.2:c.8868A>T	XP_006714552.1:p.Arg2956Ser
XM_006714491.2:c.3441A>T	XP_006714554.1:p.Arg1147Ser
XM_011514085.1:c.8868A>T	XP_011512387.1:p.Arg2956Ser
XM_011514086.1:c.8868A>T	XP_011512388.1:p.Arg2956Ser
XM_011514087.1:c.8814A>T	XP_011512389.1:p.Arg2938Ser
XM_011514088.1:c.8760A>T	XP_011512390.1:p.Arg2920Ser
XM_011514089.1:c.8868A>T	XP_011512391.1:p.Arg2956Ser
XM_011514090.1:c.8550A>T	XP_011512392.1:p.Arg2850Ser
XM_011514091.1:c.8196A>T	XP_011512393.1:p.Arg2732Ser
XM_011514092.1:c.8868A>T	XP_011512394.1:p.Arg2956Ser
XM_011514094.1:c.6093A>T	XP_011512396.1:p.Arg2031Ser
XR_427661.2:n.9043A>T
XR_925644.1:n.9043A>T
XM_005248345.4:c.8868A>T	XP_005248402.1:p.Arg2956Ser
XM_005248346.4:c.8865A>T	XP_005248403.1:p.Arg2955Ser
XM_005248347.4:c.8865A>T	XP_005248404.1:p.Arg2955Ser
XM_005248349.4:c.8757A>T	XP_005248406.1:p.Arg2919Ser
XM_005248350.4:c.8739A>T	XP_005248407.1:p.Arg2913Ser
XM_006714491.3:c.3441A>T	XP_006714554.1:p.Arg1147Ser
XM_011514085.3:c.8868A>T	XP_011512387.1:p.Arg2956Ser
XM_011514086.3:c.8868A>T	XP_011512388.1:p.Arg2956Ser
XM_011514087.2:c.8814A>T	XP_011512389.1:p.Arg2938Ser
XM_011514088.2:c.8760A>T	XP_011512390.1:p.Arg2920Ser
XM_011514089.2:c.8868A>T	XP_011512391.1:p.Arg2956Ser
XM_011514090.3:c.8550A>T	XP_011512392.1:p.Arg2850Ser
XM_011514092.2:c.8868A>T	XP_011512394.1:p.Arg2956Ser
XM_011514094.2:c.6093A>T	XP_011512396.1:p.Arg2031Ser
XM_017009760.1:c.8679A>T	XP_016865249.1:p.Arg2893Ser
XM_017009761.2:c.8679A>T	XP_016865250.1:p.Arg2893Ser
XM_017009763.1:c.7875A>T	XP_016865252.1:p.Arg2625Ser
XM_017009765.1:c.7680A>T	XP_016865254.1:p.Arg2560Ser
XM_017009766.1:c.5511A>T	XP_016865255.1:p.Arg1837Ser
XM_024446183.1:c.8679A>T	XP_024301951.1:p.Arg2893Ser
XM_024446184.1:c.8550A>T	XP_024301952.1:p.Arg2850Ser
XM_024446185.1:c.8196A>T	XP_024301953.1:p.Arg2732Ser
XM_024446186.1:c.7875A>T	XP_024301954.1:p.Arg2625Ser
XR_925644.2:n.9092A>T
NM_001384732.1:c.8868A>T MANE Select	NP_001371661.1:p.Arg2956Ser
NM_023073.4:c.8706A>T	NP_075561.3:p.Arg2902Ser