Canonical Allele Identifier: CA359476373

Gene: CPLANE1

Linked Data

• gnomAD v4: 5-37165600-G-T
• MyVariant Identifiers: chr5:g.37165702G>T (hg19) ; chr5:g.37165600G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37165600G>T , CM000667.2:g.37165600G>T	GRCh38
NC_000005.9:g.37165702G>T , CM000667.1:g.37165702G>T	GRCh37
NC_000005.8:g.37201459G>T	NCBI36
NG_032772.1:g.88829C>A
NG_032772.2:g.88829C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000651892.2:c.7472C>A MANE Select	ENSP00000498265.2:p.Thr2491Asn
ENST00000675149.1:n.592C>A
ENST00000425232.6:c.7472C>A	ENSP00000389014.2:p.Thr2491Asn
ENST00000508244.5:c.7472C>A	ENSP00000421690.1:p.Thr2491Asn
ENST00000509849.5:c.4484C>A	ENSP00000426337.1:p.Thr1495Asn
ENST00000511824.2:c.544C>A
ENST00000514429.5:c.4616C>A	ENSP00000424223.1:p.Thr1539Asn
NM_023073.3:c.7472C>A	NP_075561.3:p.Thr2491Asn
XM_005248345.2:c.7472C>A	XP_005248402.1:p.Thr2491Asn
XM_005248346.2:c.7469C>A	XP_005248403.1:p.Thr2490Asn
XM_005248347.2:c.7469C>A	XP_005248404.1:p.Thr2490Asn
XM_005248349.2:c.7469C>A	XP_005248406.1:p.Thr2490Asn
XM_005248350.2:c.7343C>A	XP_005248407.1:p.Thr2448Asn
XM_005248353.3:c.4115C>A	XP_005248410.1:p.Thr1372Asn
XM_006714489.2:c.7472C>A	XP_006714552.1:p.Thr2491Asn
XM_006714491.2:c.2045C>A	XP_006714554.1:p.Thr682Asn
XM_011514085.1:c.7472C>A	XP_011512387.1:p.Thr2491Asn
XM_011514086.1:c.7472C>A	XP_011512388.1:p.Thr2491Asn
XM_011514087.1:c.7472C>A	XP_011512389.1:p.Thr2491Asn
XM_011514088.1:c.7472C>A	XP_011512390.1:p.Thr2491Asn
XM_011514089.1:c.7472C>A	XP_011512391.1:p.Thr2491Asn
XM_011514090.1:c.7154C>A	XP_011512392.1:p.Thr2385Asn
XM_011514091.1:c.6800C>A	XP_011512393.1:p.Thr2267Asn
XM_011514092.1:c.7472C>A	XP_011512394.1:p.Thr2491Asn
XM_011514093.1:c.7472C>A	XP_011512395.1:p.Thr2491Asn
XM_011514094.1:c.4697C>A	XP_011512396.1:p.Thr1566Asn
XR_427661.2:n.7647C>A
XR_925644.1:n.7647C>A
XM_005248345.4:c.7472C>A	XP_005248402.1:p.Thr2491Asn
XM_005248346.4:c.7469C>A	XP_005248403.1:p.Thr2490Asn
XM_005248347.4:c.7469C>A	XP_005248404.1:p.Thr2490Asn
XM_005248349.4:c.7469C>A	XP_005248406.1:p.Thr2490Asn
XM_005248350.4:c.7343C>A	XP_005248407.1:p.Thr2448Asn
XM_006714491.3:c.2045C>A	XP_006714554.1:p.Thr682Asn
XM_011514085.3:c.7472C>A	XP_011512387.1:p.Thr2491Asn
XM_011514086.3:c.7472C>A	XP_011512388.1:p.Thr2491Asn
XM_011514087.2:c.7472C>A	XP_011512389.1:p.Thr2491Asn
XM_011514088.2:c.7472C>A	XP_011512390.1:p.Thr2491Asn
XM_011514089.2:c.7472C>A	XP_011512391.1:p.Thr2491Asn
XM_011514090.3:c.7154C>A	XP_011512392.1:p.Thr2385Asn
XM_011514092.2:c.7472C>A	XP_011512394.1:p.Thr2491Asn
XM_011514094.2:c.4697C>A	XP_011512396.1:p.Thr1566Asn
XM_017009760.1:c.7283C>A	XP_016865249.1:p.Thr2428Asn
XM_017009761.2:c.7283C>A	XP_016865250.1:p.Thr2428Asn
XM_017009763.1:c.6479C>A	XP_016865252.1:p.Thr2160Asn
XM_017009765.1:c.6284C>A	XP_016865254.1:p.Thr2095Asn
XM_017009766.1:c.4115C>A	XP_016865255.1:p.Thr1372Asn
XM_024446183.1:c.7283C>A	XP_024301951.1:p.Thr2428Asn
XM_024446184.1:c.7154C>A	XP_024301952.1:p.Thr2385Asn
XM_024446185.1:c.6800C>A	XP_024301953.1:p.Thr2267Asn
XM_024446186.1:c.6479C>A	XP_024301954.1:p.Thr2160Asn
XR_001742208.1:n.7696C>A
XR_002956171.1:n.7696C>A
XR_925644.2:n.7696C>A
NM_001384732.1:c.7472C>A MANE Select	NP_001371661.1:p.Thr2491Asn
NM_023073.4:c.7472C>A	NP_075561.3:p.Thr2491Asn