Canonical Allele Identifier: CA444096588

Gene: CPLANE1

Linked Data

• dbSNP Id: rs1774235562
• gnomAD v3: 5-37153752-T-C
• gnomAD v4: 5-37153752-T-C
• MyVariant Identifiers: chr5:g.37153854T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153752T>C , CM000667.2:g.37153752T>C	GRCh38
NC_000005.9:g.37153854T>C , CM000667.1:g.37153854T>C	GRCh37
NC_000005.8:g.37189611T>C	NCBI36
NG_032772.1:g.100677A>G
NG_032772.2:g.100677A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1360A>G
ENST00000651892.2:c.8361A>G MANE Select	ENSP00000498265.2:p.Leu2787=
ENST00000425232.6:c.8199A>G	ENSP00000389014.2:p.Leu2733=
ENST00000508244.5:c.8199A>G	ENSP00000421690.1:p.Leu2733=
ENST00000508405.1:n.93A>G
ENST00000509849.5:c.5373A>G	ENSP00000426337.1:p.Leu1791=
ENST00000509957.5:n.603A>G
ENST00000511824.2:c.1475A>G
ENST00000514429.5:c.5397A>G	ENSP00000424223.1:p.Leu1799=
NM_023073.3:c.8199A>G	NP_075561.3:p.Leu2733=
XM_005248345.2:c.8361A>G	XP_005248402.1:p.Leu2787=
XM_005248346.2:c.8358A>G	XP_005248403.1:p.Leu2786=
XM_005248347.2:c.8358A>G	XP_005248404.1:p.Leu2786=
XM_005248349.2:c.8250A>G	XP_005248406.1:p.Leu2750=
XM_005248350.2:c.8232A>G	XP_005248407.1:p.Leu2744=
XM_005248353.3:c.5004A>G	XP_005248410.1:p.Leu1668=
XM_006714489.2:c.8361A>G	XP_006714552.1:p.Leu2787=
XM_006714491.2:c.2934A>G	XP_006714554.1:p.Leu978=
XM_011514085.1:c.8361A>G	XP_011512387.1:p.Leu2787=
XM_011514086.1:c.8361A>G	XP_011512388.1:p.Leu2787=
XM_011514087.1:c.8307A>G	XP_011512389.1:p.Leu2769=
XM_011514088.1:c.8253A>G	XP_011512390.1:p.Leu2751=
XM_011514089.1:c.8361A>G	XP_011512391.1:p.Leu2787=
XM_011514090.1:c.8043A>G	XP_011512392.1:p.Leu2681=
XM_011514091.1:c.7689A>G	XP_011512393.1:p.Leu2563=
XM_011514092.1:c.8361A>G	XP_011512394.1:p.Leu2787=
XM_011514094.1:c.5586A>G	XP_011512396.1:p.Leu1862=
XR_427661.2:n.8536A>G
XR_925644.1:n.8536A>G
XM_005248345.4:c.8361A>G	XP_005248402.1:p.Leu2787=
XM_005248346.4:c.8358A>G	XP_005248403.1:p.Leu2786=
XM_005248347.4:c.8358A>G	XP_005248404.1:p.Leu2786=
XM_005248349.4:c.8250A>G	XP_005248406.1:p.Leu2750=
XM_005248350.4:c.8232A>G	XP_005248407.1:p.Leu2744=
XM_006714491.3:c.2934A>G	XP_006714554.1:p.Leu978=
XM_011514085.3:c.8361A>G	XP_011512387.1:p.Leu2787=
XM_011514086.3:c.8361A>G	XP_011512388.1:p.Leu2787=
XM_011514087.2:c.8307A>G	XP_011512389.1:p.Leu2769=
XM_011514088.2:c.8253A>G	XP_011512390.1:p.Leu2751=
XM_011514089.2:c.8361A>G	XP_011512391.1:p.Leu2787=
XM_011514090.3:c.8043A>G	XP_011512392.1:p.Leu2681=
XM_011514092.2:c.8361A>G	XP_011512394.1:p.Leu2787=
XM_011514094.2:c.5586A>G	XP_011512396.1:p.Leu1862=
XM_017009760.1:c.8172A>G	XP_016865249.1:p.Leu2724=
XM_017009761.2:c.8172A>G	XP_016865250.1:p.Leu2724=
XM_017009763.1:c.7368A>G	XP_016865252.1:p.Leu2456=
XM_017009765.1:c.7173A>G	XP_016865254.1:p.Leu2391=
XM_017009766.1:c.5004A>G	XP_016865255.1:p.Leu1668=
XM_024446183.1:c.8172A>G	XP_024301951.1:p.Leu2724=
XM_024446184.1:c.8043A>G	XP_024301952.1:p.Leu2681=
XM_024446185.1:c.7689A>G	XP_024301953.1:p.Leu2563=
XM_024446186.1:c.7368A>G	XP_024301954.1:p.Leu2456=
XR_001742208.1:n.8530A>G
XR_002956171.1:n.8476A>G
XR_925644.2:n.8585A>G
NM_001384732.1:c.8361A>G MANE Select	NP_001371661.1:p.Leu2787=
NM_023073.4:c.8199A>G	NP_075561.3:p.Leu2733=