Canonical Allele Identifier: CA359474001

Gene: CPLANE1

Linked Data

• gnomAD v4: 5-37153867-T-G
• MyVariant Identifiers: chr5:g.37153969T>G (hg19) ; chr5:g.37153867T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153867T>G , CM000667.2:g.37153867T>G	GRCh38
NC_000005.9:g.37153969T>G , CM000667.1:g.37153969T>G	GRCh37
NC_000005.8:g.37189726T>G	NCBI36
NG_032772.1:g.100562A>C
NG_032772.2:g.100562A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1245A>C
ENST00000651892.2:c.8246A>C MANE Select	ENSP00000498265.2:p.His2749Pro
ENST00000425232.6:c.8084A>C	ENSP00000389014.2:p.His2695Pro
ENST00000508244.5:c.8084A>C	ENSP00000421690.1:p.His2695Pro
ENST00000509849.5:c.5258A>C	ENSP00000426337.1:p.His1753Pro
ENST00000509957.5:n.488A>C
ENST00000511210.5:n.537A>C
ENST00000511824.2:c.1360A>C
ENST00000514429.5:c.5282A>C	ENSP00000424223.1:p.His1761Pro
NM_023073.3:c.8084A>C	NP_075561.3:p.His2695Pro
XM_005248345.2:c.8246A>C	XP_005248402.1:p.His2749Pro
XM_005248346.2:c.8243A>C	XP_005248403.1:p.His2748Pro
XM_005248347.2:c.8243A>C	XP_005248404.1:p.His2748Pro
XM_005248349.2:c.8135A>C	XP_005248406.1:p.His2712Pro
XM_005248350.2:c.8117A>C	XP_005248407.1:p.His2706Pro
XM_005248353.3:c.4889A>C	XP_005248410.1:p.His1630Pro
XM_006714489.2:c.8246A>C	XP_006714552.1:p.His2749Pro
XM_006714491.2:c.2819A>C	XP_006714554.1:p.His940Pro
XM_011514085.1:c.8246A>C	XP_011512387.1:p.His2749Pro
XM_011514086.1:c.8246A>C	XP_011512388.1:p.His2749Pro
XM_011514087.1:c.8192A>C	XP_011512389.1:p.His2731Pro
XM_011514088.1:c.8138A>C	XP_011512390.1:p.His2713Pro
XM_011514089.1:c.8246A>C	XP_011512391.1:p.His2749Pro
XM_011514090.1:c.7928A>C	XP_011512392.1:p.His2643Pro
XM_011514091.1:c.7574A>C	XP_011512393.1:p.His2525Pro
XM_011514092.1:c.8246A>C	XP_011512394.1:p.His2749Pro
XM_011514094.1:c.5471A>C	XP_011512396.1:p.His1824Pro
XR_427661.2:n.8421A>C
XR_925644.1:n.8421A>C
XM_005248345.4:c.8246A>C	XP_005248402.1:p.His2749Pro
XM_005248346.4:c.8243A>C	XP_005248403.1:p.His2748Pro
XM_005248347.4:c.8243A>C	XP_005248404.1:p.His2748Pro
XM_005248349.4:c.8135A>C	XP_005248406.1:p.His2712Pro
XM_005248350.4:c.8117A>C	XP_005248407.1:p.His2706Pro
XM_006714491.3:c.2819A>C	XP_006714554.1:p.His940Pro
XM_011514085.3:c.8246A>C	XP_011512387.1:p.His2749Pro
XM_011514086.3:c.8246A>C	XP_011512388.1:p.His2749Pro
XM_011514087.2:c.8192A>C	XP_011512389.1:p.His2731Pro
XM_011514088.2:c.8138A>C	XP_011512390.1:p.His2713Pro
XM_011514089.2:c.8246A>C	XP_011512391.1:p.His2749Pro
XM_011514090.3:c.7928A>C	XP_011512392.1:p.His2643Pro
XM_011514092.2:c.8246A>C	XP_011512394.1:p.His2749Pro
XM_011514094.2:c.5471A>C	XP_011512396.1:p.His1824Pro
XM_017009760.1:c.8057A>C	XP_016865249.1:p.His2686Pro
XM_017009761.2:c.8057A>C	XP_016865250.1:p.His2686Pro
XM_017009763.1:c.7253A>C	XP_016865252.1:p.His2418Pro
XM_017009765.1:c.7058A>C	XP_016865254.1:p.His2353Pro
XM_017009766.1:c.4889A>C	XP_016865255.1:p.His1630Pro
XM_024446183.1:c.8057A>C	XP_024301951.1:p.His2686Pro
XM_024446184.1:c.7928A>C	XP_024301952.1:p.His2643Pro
XM_024446185.1:c.7574A>C	XP_024301953.1:p.His2525Pro
XM_024446186.1:c.7253A>C	XP_024301954.1:p.His2418Pro
XR_001742208.1:n.8415A>C
XR_002956171.1:n.8361A>C
XR_925644.2:n.8470A>C
NM_001384732.1:c.8246A>C MANE Select	NP_001371661.1:p.His2749Pro
NM_023073.4:c.8084A>C	NP_075561.3:p.His2695Pro