Canonical Allele Identifier: CA359497026

Gene: CPLANE1

Linked Data

• dbSNP Id: rs1762933322
• MyVariant Identifiers: chr5:g.37122577G>C (hg19) ; chr5:g.37122475G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37122475G>C , CM000667.2:g.37122475G>C	GRCh38
NC_000005.9:g.37122577G>C , CM000667.1:g.37122577G>C	GRCh37
NC_000005.8:g.37158334G>C	NCBI36
NG_032772.1:g.131954C>G
NG_032772.2:g.131954C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651892.2:c.8972C>G MANE Select	ENSP00000498265.2:p.Ser2991Ter
ENST00000676160.1:n.833C>G
ENST00000425232.6:c.8810C>G	ENSP00000389014.2:p.Ser2937Ter
ENST00000508244.5:c.8810C>G	ENSP00000421690.1:p.Ser2937Ter
ENST00000509849.5:c.5984C>G	ENSP00000426337.1:n.5984C>G
ENST00000512288.5:n.342-691C>G
ENST00000514429.5:c.6008C>G	ENSP00000424223.1:p.Ser2003Ter
NM_023073.3:c.8810C>G	NP_075561.3:p.Ser2937Ter
XM_005248345.2:c.8972C>G	XP_005248402.1:p.Ser2991Ter
XM_005248346.2:c.8969C>G	XP_005248403.1:p.Ser2990Ter
XM_005248347.2:c.8969C>G	XP_005248404.1:p.Ser2990Ter
XM_005248349.2:c.8861C>G	XP_005248406.1:p.Ser2954Ter
XM_005248350.2:c.8843C>G	XP_005248407.1:p.Ser2948Ter
XM_005248353.3:c.5615C>G	XP_005248410.1:p.Ser1872Ter
XM_006714489.2:c.8972C>G	XP_006714552.1:p.Ser2991Ter
XM_006714491.2:c.3545C>G	XP_006714554.1:p.Ser1182Ter
XM_011514085.1:c.8972C>G	XP_011512387.1:p.Ser2991Ter
XM_011514086.1:c.8972C>G	XP_011512388.1:p.Ser2991Ter
XM_011514087.1:c.8918C>G	XP_011512389.1:p.Ser2973Ter
XM_011514088.1:c.8864C>G	XP_011512390.1:p.Ser2955Ter
XM_011514089.1:c.8972C>G	XP_011512391.1:p.Ser2991Ter
XM_011514090.1:c.8654C>G	XP_011512392.1:p.Ser2885Ter
XM_011514091.1:c.8300C>G	XP_011512393.1:p.Ser2767Ter
XM_011514092.1:c.8972C>G	XP_011512394.1:p.Ser2991Ter
XM_011514094.1:c.6197C>G	XP_011512396.1:p.Ser2066Ter
XR_427661.2:n.9147C>G
XR_925644.1:n.9147C>G
XM_005248345.4:c.8972C>G	XP_005248402.1:p.Ser2991Ter
XM_005248346.4:c.8969C>G	XP_005248403.1:p.Ser2990Ter
XM_005248347.4:c.8969C>G	XP_005248404.1:p.Ser2990Ter
XM_005248349.4:c.8861C>G	XP_005248406.1:p.Ser2954Ter
XM_005248350.4:c.8843C>G	XP_005248407.1:p.Ser2948Ter
XM_006714491.3:c.3545C>G	XP_006714554.1:p.Ser1182Ter
XM_011514085.3:c.8972C>G	XP_011512387.1:p.Ser2991Ter
XM_011514086.3:c.8972C>G	XP_011512388.1:p.Ser2991Ter
XM_011514087.2:c.8918C>G	XP_011512389.1:p.Ser2973Ter
XM_011514088.2:c.8864C>G	XP_011512390.1:p.Ser2955Ter
XM_011514089.2:c.8972C>G	XP_011512391.1:p.Ser2991Ter
XM_011514090.3:c.8654C>G	XP_011512392.1:p.Ser2885Ter
XM_011514092.2:c.8972C>G	XP_011512394.1:p.Ser2991Ter
XM_011514094.2:c.6197C>G	XP_011512396.1:p.Ser2066Ter
XM_017009760.1:c.8783C>G	XP_016865249.1:p.Ser2928Ter
XM_017009761.2:c.8783C>G	XP_016865250.1:p.Ser2928Ter
XM_017009763.1:c.7979C>G	XP_016865252.1:p.Ser2660Ter
XM_017009765.1:c.7784C>G	XP_016865254.1:p.Ser2595Ter
XM_017009766.1:c.5615C>G	XP_016865255.1:p.Ser1872Ter
XM_024446183.1:c.8783C>G	XP_024301951.1:p.Ser2928Ter
XM_024446184.1:c.8654C>G	XP_024301952.1:p.Ser2885Ter
XM_024446185.1:c.8300C>G	XP_024301953.1:p.Ser2767Ter
XM_024446186.1:c.7979C>G	XP_024301954.1:p.Ser2660Ter
XR_925644.2:n.9196C>G
NM_001384732.1:c.8972C>G MANE Select	NP_001371661.1:p.Ser2991Ter
NM_023073.4:c.8810C>G	NP_075561.3:p.Ser2937Ter