Canonical Allele Identifier: CA359474445

Gene: CPLANE1

Linked Data

• dbSNP Id: rs1774300118
• gnomAD v4: 5-37153993-C-G
• MyVariant Identifiers: chr5:g.37154095C>G (hg19) ; chr5:g.37153993C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153993C>G , CM000667.2:g.37153993C>G	GRCh38
NC_000005.9:g.37154095C>G , CM000667.1:g.37154095C>G	GRCh37
NC_000005.8:g.37189852C>G	NCBI36
NG_032772.1:g.100436G>C
NG_032772.2:g.100436G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1119G>C
ENST00000651892.2:c.8120G>C MANE Select	ENSP00000498265.2:p.Gly2707Ala
ENST00000425232.6:c.7958G>C	ENSP00000389014.2:p.Gly2653Ala
ENST00000508244.5:c.7958G>C	ENSP00000421690.1:p.Gly2653Ala
ENST00000509849.5:c.5132G>C	ENSP00000426337.1:p.Gly1711Ala
ENST00000509957.5:n.362G>C
ENST00000511210.5:n.411G>C
ENST00000511824.2:c.1234G>C
ENST00000514429.5:c.5156G>C	ENSP00000424223.1:p.Gly1719Ala
ENST00000515380.1:n.372G>C
NM_023073.3:c.7958G>C	NP_075561.3:p.Gly2653Ala
XM_005248345.2:c.8120G>C	XP_005248402.1:p.Gly2707Ala
XM_005248346.2:c.8117G>C	XP_005248403.1:p.Gly2706Ala
XM_005248347.2:c.8117G>C	XP_005248404.1:p.Gly2706Ala
XM_005248349.2:c.8009G>C	XP_005248406.1:p.Gly2670Ala
XM_005248350.2:c.7991G>C	XP_005248407.1:p.Gly2664Ala
XM_005248353.3:c.4763G>C	XP_005248410.1:p.Gly1588Ala
XM_006714489.2:c.8120G>C	XP_006714552.1:p.Gly2707Ala
XM_006714491.2:c.2693G>C	XP_006714554.1:p.Gly898Ala
XM_011514085.1:c.8120G>C	XP_011512387.1:p.Gly2707Ala
XM_011514086.1:c.8120G>C	XP_011512388.1:p.Gly2707Ala
XM_011514087.1:c.8066G>C	XP_011512389.1:p.Gly2689Ala
XM_011514088.1:c.8012G>C	XP_011512390.1:p.Gly2671Ala
XM_011514089.1:c.8120G>C	XP_011512391.1:p.Gly2707Ala
XM_011514090.1:c.7802G>C	XP_011512392.1:p.Gly2601Ala
XM_011514091.1:c.7448G>C	XP_011512393.1:p.Gly2483Ala
XM_011514092.1:c.8120G>C	XP_011512394.1:p.Gly2707Ala
XM_011514094.1:c.5345G>C	XP_011512396.1:p.Gly1782Ala
XR_427661.2:n.8295G>C
XR_925644.1:n.8295G>C
XM_005248345.4:c.8120G>C	XP_005248402.1:p.Gly2707Ala
XM_005248346.4:c.8117G>C	XP_005248403.1:p.Gly2706Ala
XM_005248347.4:c.8117G>C	XP_005248404.1:p.Gly2706Ala
XM_005248349.4:c.8009G>C	XP_005248406.1:p.Gly2670Ala
XM_005248350.4:c.7991G>C	XP_005248407.1:p.Gly2664Ala
XM_006714491.3:c.2693G>C	XP_006714554.1:p.Gly898Ala
XM_011514085.3:c.8120G>C	XP_011512387.1:p.Gly2707Ala
XM_011514086.3:c.8120G>C	XP_011512388.1:p.Gly2707Ala
XM_011514087.2:c.8066G>C	XP_011512389.1:p.Gly2689Ala
XM_011514088.2:c.8012G>C	XP_011512390.1:p.Gly2671Ala
XM_011514089.2:c.8120G>C	XP_011512391.1:p.Gly2707Ala
XM_011514090.3:c.7802G>C	XP_011512392.1:p.Gly2601Ala
XM_011514092.2:c.8120G>C	XP_011512394.1:p.Gly2707Ala
XM_011514094.2:c.5345G>C	XP_011512396.1:p.Gly1782Ala
XM_017009760.1:c.7931G>C	XP_016865249.1:p.Gly2644Ala
XM_017009761.2:c.7931G>C	XP_016865250.1:p.Gly2644Ala
XM_017009763.1:c.7127G>C	XP_016865252.1:p.Gly2376Ala
XM_017009765.1:c.6932G>C	XP_016865254.1:p.Gly2311Ala
XM_017009766.1:c.4763G>C	XP_016865255.1:p.Gly1588Ala
XM_024446183.1:c.7931G>C	XP_024301951.1:p.Gly2644Ala
XM_024446184.1:c.7802G>C	XP_024301952.1:p.Gly2601Ala
XM_024446185.1:c.7448G>C	XP_024301953.1:p.Gly2483Ala
XM_024446186.1:c.7127G>C	XP_024301954.1:p.Gly2376Ala
XR_001742208.1:n.8289G>C
XR_002956171.1:n.8235G>C
XR_925644.2:n.8344G>C
NM_001384732.1:c.8120G>C MANE Select	NP_001371661.1:p.Gly2707Ala
NM_023073.4:c.7958G>C	NP_075561.3:p.Gly2653Ala