Canonical Allele Identifier: CA3237816

Gene: CPLANE1

Linked Data

• dbSNP Id: rs754429808
• ExAC: 5:37153849 C / G
• gnomAD v2: 5-37153849-C-G
• gnomAD v4: 5-37153747-C-G
• MyVariant Identifiers: chr5:g.37153849C>G (hg19) ; chr5:g.37153747C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153747C>G , CM000667.2:g.37153747C>G	GRCh38
NC_000005.9:g.37153849C>G , CM000667.1:g.37153849C>G	GRCh37
NC_000005.8:g.37189606C>G	NCBI36
NG_032772.1:g.100682G>C
NG_032772.2:g.100682G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1365G>C
ENST00000651892.2:c.8366G>C MANE Select	ENSP00000498265.2:p.Cys2789Ser
ENST00000425232.6:c.8204G>C	ENSP00000389014.2:p.Cys2735Ser
ENST00000508244.5:c.8204G>C	ENSP00000421690.1:p.Cys2735Ser
ENST00000508405.1:n.98G>C
ENST00000509849.5:c.5378G>C	ENSP00000426337.1:p.Cys1793Ser
ENST00000509957.5:n.608G>C
ENST00000511824.2:c.1480G>C
ENST00000514429.5:c.5402G>C	ENSP00000424223.1:p.Cys1801Ser
NM_023073.3:c.8204G>C	NP_075561.3:p.Cys2735Ser
XM_005248345.2:c.8366G>C	XP_005248402.1:p.Cys2789Ser
XM_005248346.2:c.8363G>C	XP_005248403.1:p.Cys2788Ser
XM_005248347.2:c.8363G>C	XP_005248404.1:p.Cys2788Ser
XM_005248349.2:c.8255G>C	XP_005248406.1:p.Cys2752Ser
XM_005248350.2:c.8237G>C	XP_005248407.1:p.Cys2746Ser
XM_005248353.3:c.5009G>C	XP_005248410.1:p.Cys1670Ser
XM_006714489.2:c.8366G>C	XP_006714552.1:p.Cys2789Ser
XM_006714491.2:c.2939G>C	XP_006714554.1:p.Cys980Ser
XM_011514085.1:c.8366G>C	XP_011512387.1:p.Cys2789Ser
XM_011514086.1:c.8366G>C	XP_011512388.1:p.Cys2789Ser
XM_011514087.1:c.8312G>C	XP_011512389.1:p.Cys2771Ser
XM_011514088.1:c.8258G>C	XP_011512390.1:p.Cys2753Ser
XM_011514089.1:c.8366G>C	XP_011512391.1:p.Cys2789Ser
XM_011514090.1:c.8048G>C	XP_011512392.1:p.Cys2683Ser
XM_011514091.1:c.7694G>C	XP_011512393.1:p.Cys2565Ser
XM_011514092.1:c.8366G>C	XP_011512394.1:p.Cys2789Ser
XM_011514094.1:c.5591G>C	XP_011512396.1:p.Cys1864Ser
XR_427661.2:n.8541G>C
XR_925644.1:n.8541G>C
XM_005248345.4:c.8366G>C	XP_005248402.1:p.Cys2789Ser
XM_005248346.4:c.8363G>C	XP_005248403.1:p.Cys2788Ser
XM_005248347.4:c.8363G>C	XP_005248404.1:p.Cys2788Ser
XM_005248349.4:c.8255G>C	XP_005248406.1:p.Cys2752Ser
XM_005248350.4:c.8237G>C	XP_005248407.1:p.Cys2746Ser
XM_006714491.3:c.2939G>C	XP_006714554.1:p.Cys980Ser
XM_011514085.3:c.8366G>C	XP_011512387.1:p.Cys2789Ser
XM_011514086.3:c.8366G>C	XP_011512388.1:p.Cys2789Ser
XM_011514087.2:c.8312G>C	XP_011512389.1:p.Cys2771Ser
XM_011514088.2:c.8258G>C	XP_011512390.1:p.Cys2753Ser
XM_011514089.2:c.8366G>C	XP_011512391.1:p.Cys2789Ser
XM_011514090.3:c.8048G>C	XP_011512392.1:p.Cys2683Ser
XM_011514092.2:c.8366G>C	XP_011512394.1:p.Cys2789Ser
XM_011514094.2:c.5591G>C	XP_011512396.1:p.Cys1864Ser
XM_017009760.1:c.8177G>C	XP_016865249.1:p.Cys2726Ser
XM_017009761.2:c.8177G>C	XP_016865250.1:p.Cys2726Ser
XM_017009763.1:c.7373G>C	XP_016865252.1:p.Cys2458Ser
XM_017009765.1:c.7178G>C	XP_016865254.1:p.Cys2393Ser
XM_017009766.1:c.5009G>C	XP_016865255.1:p.Cys1670Ser
XM_024446183.1:c.8177G>C	XP_024301951.1:p.Cys2726Ser
XM_024446184.1:c.8048G>C	XP_024301952.1:p.Cys2683Ser
XM_024446185.1:c.7694G>C	XP_024301953.1:p.Cys2565Ser
XM_024446186.1:c.7373G>C	XP_024301954.1:p.Cys2458Ser
XR_001742208.1:n.8535G>C
XR_002956171.1:n.8481G>C
XR_925644.2:n.8590G>C
NM_001384732.1:c.8366G>C MANE Select	NP_001371661.1:p.Cys2789Ser
NM_023073.4:c.8204G>C	NP_075561.3:p.Cys2735Ser