Canonical Allele Identifier: CA3237848

Gene: CPLANE1

Linked Data

• ClinVar Variation Id: 716734
• ClinVar RCV Id: RCV000889425
• dbSNP Id: rs375897633
• ExAC: 5:37154028 T / C
• gnomAD v2: 5-37154028-T-C
• gnomAD v3: 5-37153926-T-C
• gnomAD v4: 5-37153926-T-C
• MyVariant Identifiers: chr5:g.37154028T>C (hg19) ; chr5:g.37153926T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153926T>C , CM000667.2:g.37153926T>C	GRCh38
NC_000005.9:g.37154028T>C , CM000667.1:g.37154028T>C	GRCh37
NC_000005.8:g.37189785T>C	NCBI36
NG_032772.1:g.100503A>G
NG_032772.2:g.100503A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1186A>G
ENST00000651892.2:c.8187A>G MANE Select	ENSP00000498265.2:p.Leu2729=
ENST00000425232.6:c.8025A>G	ENSP00000389014.2:p.Leu2675=
ENST00000508244.5:c.8025A>G	ENSP00000421690.1:p.Leu2675=
ENST00000509849.5:c.5199A>G	ENSP00000426337.1:p.Leu1733=
ENST00000509957.5:n.429A>G
ENST00000511210.5:n.478A>G
ENST00000511824.2:c.1301A>G
ENST00000514429.5:c.5223A>G	ENSP00000424223.1:p.Leu1741=
ENST00000515380.1:n.439A>G
NM_023073.3:c.8025A>G	NP_075561.3:p.Leu2675=
XM_005248345.2:c.8187A>G	XP_005248402.1:p.Leu2729=
XM_005248346.2:c.8184A>G	XP_005248403.1:p.Leu2728=
XM_005248347.2:c.8184A>G	XP_005248404.1:p.Leu2728=
XM_005248349.2:c.8076A>G	XP_005248406.1:p.Leu2692=
XM_005248350.2:c.8058A>G	XP_005248407.1:p.Leu2686=
XM_005248353.3:c.4830A>G	XP_005248410.1:p.Leu1610=
XM_006714489.2:c.8187A>G	XP_006714552.1:p.Leu2729=
XM_006714491.2:c.2760A>G	XP_006714554.1:p.Leu920=
XM_011514085.1:c.8187A>G	XP_011512387.1:p.Leu2729=
XM_011514086.1:c.8187A>G	XP_011512388.1:p.Leu2729=
XM_011514087.1:c.8133A>G	XP_011512389.1:p.Leu2711=
XM_011514088.1:c.8079A>G	XP_011512390.1:p.Leu2693=
XM_011514089.1:c.8187A>G	XP_011512391.1:p.Leu2729=
XM_011514090.1:c.7869A>G	XP_011512392.1:p.Leu2623=
XM_011514091.1:c.7515A>G	XP_011512393.1:p.Leu2505=
XM_011514092.1:c.8187A>G	XP_011512394.1:p.Leu2729=
XM_011514094.1:c.5412A>G	XP_011512396.1:p.Leu1804=
XR_427661.2:n.8362A>G
XR_925644.1:n.8362A>G
XM_005248345.4:c.8187A>G	XP_005248402.1:p.Leu2729=
XM_005248346.4:c.8184A>G	XP_005248403.1:p.Leu2728=
XM_005248347.4:c.8184A>G	XP_005248404.1:p.Leu2728=
XM_005248349.4:c.8076A>G	XP_005248406.1:p.Leu2692=
XM_005248350.4:c.8058A>G	XP_005248407.1:p.Leu2686=
XM_006714491.3:c.2760A>G	XP_006714554.1:p.Leu920=
XM_011514085.3:c.8187A>G	XP_011512387.1:p.Leu2729=
XM_011514086.3:c.8187A>G	XP_011512388.1:p.Leu2729=
XM_011514087.2:c.8133A>G	XP_011512389.1:p.Leu2711=
XM_011514088.2:c.8079A>G	XP_011512390.1:p.Leu2693=
XM_011514089.2:c.8187A>G	XP_011512391.1:p.Leu2729=
XM_011514090.3:c.7869A>G	XP_011512392.1:p.Leu2623=
XM_011514092.2:c.8187A>G	XP_011512394.1:p.Leu2729=
XM_011514094.2:c.5412A>G	XP_011512396.1:p.Leu1804=
XM_017009760.1:c.7998A>G	XP_016865249.1:p.Leu2666=
XM_017009761.2:c.7998A>G	XP_016865250.1:p.Leu2666=
XM_017009763.1:c.7194A>G	XP_016865252.1:p.Leu2398=
XM_017009765.1:c.6999A>G	XP_016865254.1:p.Leu2333=
XM_017009766.1:c.4830A>G	XP_016865255.1:p.Leu1610=
XM_024446183.1:c.7998A>G	XP_024301951.1:p.Leu2666=
XM_024446184.1:c.7869A>G	XP_024301952.1:p.Leu2623=
XM_024446185.1:c.7515A>G	XP_024301953.1:p.Leu2505=
XM_024446186.1:c.7194A>G	XP_024301954.1:p.Leu2398=
XR_001742208.1:n.8356A>G
XR_002956171.1:n.8302A>G
XR_925644.2:n.8411A>G
NM_001384732.1:c.8187A>G MANE Select	NP_001371661.1:p.Leu2729=
NM_023073.4:c.8025A>G	NP_075561.3:p.Leu2675=