Canonical Allele Identifier: CA359476376

Gene: CPLANE1

Linked Data

• gnomAD v4: 5-37165601-T-C
• MyVariant Identifiers: chr5:g.37165703T>C (hg19) ; chr5:g.37165601T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37165601T>C , CM000667.2:g.37165601T>C	GRCh38
NC_000005.9:g.37165703T>C , CM000667.1:g.37165703T>C	GRCh37
NC_000005.8:g.37201460T>C	NCBI36
NG_032772.1:g.88828A>G
NG_032772.2:g.88828A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000651892.2:c.7471A>G MANE Select	ENSP00000498265.2:p.Thr2491Ala
ENST00000675149.1:n.591A>G
ENST00000425232.6:c.7471A>G	ENSP00000389014.2:p.Thr2491Ala
ENST00000508244.5:c.7471A>G	ENSP00000421690.1:p.Thr2491Ala
ENST00000509849.5:c.4483A>G	ENSP00000426337.1:p.Thr1495Ala
ENST00000511824.2:c.543A>G
ENST00000514429.5:c.4615A>G	ENSP00000424223.1:p.Thr1539Ala
NM_023073.3:c.7471A>G	NP_075561.3:p.Thr2491Ala
XM_005248345.2:c.7471A>G	XP_005248402.1:p.Thr2491Ala
XM_005248346.2:c.7468A>G	XP_005248403.1:p.Thr2490Ala
XM_005248347.2:c.7468A>G	XP_005248404.1:p.Thr2490Ala
XM_005248349.2:c.7468A>G	XP_005248406.1:p.Thr2490Ala
XM_005248350.2:c.7342A>G	XP_005248407.1:p.Thr2448Ala
XM_005248353.3:c.4114A>G	XP_005248410.1:p.Thr1372Ala
XM_006714489.2:c.7471A>G	XP_006714552.1:p.Thr2491Ala
XM_006714491.2:c.2044A>G	XP_006714554.1:p.Thr682Ala
XM_011514085.1:c.7471A>G	XP_011512387.1:p.Thr2491Ala
XM_011514086.1:c.7471A>G	XP_011512388.1:p.Thr2491Ala
XM_011514087.1:c.7471A>G	XP_011512389.1:p.Thr2491Ala
XM_011514088.1:c.7471A>G	XP_011512390.1:p.Thr2491Ala
XM_011514089.1:c.7471A>G	XP_011512391.1:p.Thr2491Ala
XM_011514090.1:c.7153A>G	XP_011512392.1:p.Thr2385Ala
XM_011514091.1:c.6799A>G	XP_011512393.1:p.Thr2267Ala
XM_011514092.1:c.7471A>G	XP_011512394.1:p.Thr2491Ala
XM_011514093.1:c.7471A>G	XP_011512395.1:p.Thr2491Ala
XM_011514094.1:c.4696A>G	XP_011512396.1:p.Thr1566Ala
XR_427661.2:n.7646A>G
XR_925644.1:n.7646A>G
XM_005248345.4:c.7471A>G	XP_005248402.1:p.Thr2491Ala
XM_005248346.4:c.7468A>G	XP_005248403.1:p.Thr2490Ala
XM_005248347.4:c.7468A>G	XP_005248404.1:p.Thr2490Ala
XM_005248349.4:c.7468A>G	XP_005248406.1:p.Thr2490Ala
XM_005248350.4:c.7342A>G	XP_005248407.1:p.Thr2448Ala
XM_006714491.3:c.2044A>G	XP_006714554.1:p.Thr682Ala
XM_011514085.3:c.7471A>G	XP_011512387.1:p.Thr2491Ala
XM_011514086.3:c.7471A>G	XP_011512388.1:p.Thr2491Ala
XM_011514087.2:c.7471A>G	XP_011512389.1:p.Thr2491Ala
XM_011514088.2:c.7471A>G	XP_011512390.1:p.Thr2491Ala
XM_011514089.2:c.7471A>G	XP_011512391.1:p.Thr2491Ala
XM_011514090.3:c.7153A>G	XP_011512392.1:p.Thr2385Ala
XM_011514092.2:c.7471A>G	XP_011512394.1:p.Thr2491Ala
XM_011514094.2:c.4696A>G	XP_011512396.1:p.Thr1566Ala
XM_017009760.1:c.7282A>G	XP_016865249.1:p.Thr2428Ala
XM_017009761.2:c.7282A>G	XP_016865250.1:p.Thr2428Ala
XM_017009763.1:c.6478A>G	XP_016865252.1:p.Thr2160Ala
XM_017009765.1:c.6283A>G	XP_016865254.1:p.Thr2095Ala
XM_017009766.1:c.4114A>G	XP_016865255.1:p.Thr1372Ala
XM_024446183.1:c.7282A>G	XP_024301951.1:p.Thr2428Ala
XM_024446184.1:c.7153A>G	XP_024301952.1:p.Thr2385Ala
XM_024446185.1:c.6799A>G	XP_024301953.1:p.Thr2267Ala
XM_024446186.1:c.6478A>G	XP_024301954.1:p.Thr2160Ala
XR_001742208.1:n.7695A>G
XR_002956171.1:n.7695A>G
XR_925644.2:n.7695A>G
NM_001384732.1:c.7471A>G MANE Select	NP_001371661.1:p.Thr2491Ala
NM_023073.4:c.7471A>G	NP_075561.3:p.Thr2491Ala