Canonical Allele Identifier: CA117059240

Gene: CPLANE1

Linked Data

• dbSNP Id: rs993541635
• MyVariant Identifiers: chr5:g.37125443A>T (hg19) ; chr5:g.37125341A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37125341A>T , CM000667.2:g.37125341A>T	GRCh38
NC_000005.9:g.37125443A>T , CM000667.1:g.37125443A>T	GRCh37
NC_000005.8:g.37161200A>T	NCBI36
NG_032772.1:g.129088T>A
NG_032772.2:g.129088T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1860T>A
ENST00000651892.2:c.8861T>A MANE Select	ENSP00000498265.2:p.Met2954Lys
ENST00000676160.1:n.722T>A
ENST00000425232.6:c.8699T>A	ENSP00000389014.2:p.Met2900Lys
ENST00000508244.5:c.8699T>A	ENSP00000421690.1:p.Met2900Lys
ENST00000509849.5:c.5873T>A	ENSP00000426337.1:n.5873T>A
ENST00000509957.5:n.4042T>A
ENST00000512288.5:n.342-3557T>A
ENST00000514429.5:c.5897T>A	ENSP00000424223.1:p.Met1966Lys
NM_023073.3:c.8699T>A	NP_075561.3:p.Met2900Lys
XM_005248345.2:c.8861T>A	XP_005248402.1:p.Met2954Lys
XM_005248346.2:c.8858T>A	XP_005248403.1:p.Met2953Lys
XM_005248347.2:c.8858T>A	XP_005248404.1:p.Met2953Lys
XM_005248349.2:c.8750T>A	XP_005248406.1:p.Met2917Lys
XM_005248350.2:c.8732T>A	XP_005248407.1:p.Met2911Lys
XM_005248353.3:c.5504T>A	XP_005248410.1:p.Met1835Lys
XM_006714489.2:c.8861T>A	XP_006714552.1:p.Met2954Lys
XM_006714491.2:c.3434T>A	XP_006714554.1:p.Met1145Lys
XM_011514085.1:c.8861T>A	XP_011512387.1:p.Met2954Lys
XM_011514086.1:c.8861T>A	XP_011512388.1:p.Met2954Lys
XM_011514087.1:c.8807T>A	XP_011512389.1:p.Met2936Lys
XM_011514088.1:c.8753T>A	XP_011512390.1:p.Met2918Lys
XM_011514089.1:c.8861T>A	XP_011512391.1:p.Met2954Lys
XM_011514090.1:c.8543T>A	XP_011512392.1:p.Met2848Lys
XM_011514091.1:c.8189T>A	XP_011512393.1:p.Met2730Lys
XM_011514092.1:c.8861T>A	XP_011512394.1:p.Met2954Lys
XM_011514094.1:c.6086T>A	XP_011512396.1:p.Met2029Lys
XR_427661.2:n.9036T>A
XR_925644.1:n.9036T>A
XM_005248345.4:c.8861T>A	XP_005248402.1:p.Met2954Lys
XM_005248346.4:c.8858T>A	XP_005248403.1:p.Met2953Lys
XM_005248347.4:c.8858T>A	XP_005248404.1:p.Met2953Lys
XM_005248349.4:c.8750T>A	XP_005248406.1:p.Met2917Lys
XM_005248350.4:c.8732T>A	XP_005248407.1:p.Met2911Lys
XM_006714491.3:c.3434T>A	XP_006714554.1:p.Met1145Lys
XM_011514085.3:c.8861T>A	XP_011512387.1:p.Met2954Lys
XM_011514086.3:c.8861T>A	XP_011512388.1:p.Met2954Lys
XM_011514087.2:c.8807T>A	XP_011512389.1:p.Met2936Lys
XM_011514088.2:c.8753T>A	XP_011512390.1:p.Met2918Lys
XM_011514089.2:c.8861T>A	XP_011512391.1:p.Met2954Lys
XM_011514090.3:c.8543T>A	XP_011512392.1:p.Met2848Lys
XM_011514092.2:c.8861T>A	XP_011512394.1:p.Met2954Lys
XM_011514094.2:c.6086T>A	XP_011512396.1:p.Met2029Lys
XM_017009760.1:c.8672T>A	XP_016865249.1:p.Met2891Lys
XM_017009761.2:c.8672T>A	XP_016865250.1:p.Met2891Lys
XM_017009763.1:c.7868T>A	XP_016865252.1:p.Met2623Lys
XM_017009765.1:c.7673T>A	XP_016865254.1:p.Met2558Lys
XM_017009766.1:c.5504T>A	XP_016865255.1:p.Met1835Lys
XM_024446183.1:c.8672T>A	XP_024301951.1:p.Met2891Lys
XM_024446184.1:c.8543T>A	XP_024301952.1:p.Met2848Lys
XM_024446185.1:c.8189T>A	XP_024301953.1:p.Met2730Lys
XM_024446186.1:c.7868T>A	XP_024301954.1:p.Met2623Lys
XR_001742208.1:n.9030T>A
XR_925644.2:n.9085T>A
NM_001384732.1:c.8861T>A MANE Select	NP_001371661.1:p.Met2954Lys
NM_023073.4:c.8699T>A	NP_075561.3:p.Met2900Lys