Canonical Allele Identifier: CA444096754

Gene: CPLANE1

Linked Data

• dbSNP Id: rs1774286814
• gnomAD v3: 5-37153929-A-G
• gnomAD v4: 5-37153929-A-G
• MyVariant Identifiers: chr5:g.37154031A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153929A>G , CM000667.2:g.37153929A>G	GRCh38
NC_000005.9:g.37154031A>G , CM000667.1:g.37154031A>G	GRCh37
NC_000005.8:g.37189788A>G	NCBI36
NG_032772.1:g.100500T>C
NG_032772.2:g.100500T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1183T>C
ENST00000651892.2:c.8184T>C MANE Select	ENSP00000498265.2:p.Tyr2728=
ENST00000425232.6:c.8022T>C	ENSP00000389014.2:p.Tyr2674=
ENST00000508244.5:c.8022T>C	ENSP00000421690.1:p.Tyr2674=
ENST00000509849.5:c.5196T>C	ENSP00000426337.1:p.Tyr1732=
ENST00000509957.5:n.426T>C
ENST00000511210.5:n.475T>C
ENST00000511824.2:c.1298T>C
ENST00000514429.5:c.5220T>C	ENSP00000424223.1:p.Tyr1740=
ENST00000515380.1:n.436T>C
NM_023073.3:c.8022T>C	NP_075561.3:p.Tyr2674=
XM_005248345.2:c.8184T>C	XP_005248402.1:p.Tyr2728=
XM_005248346.2:c.8181T>C	XP_005248403.1:p.Tyr2727=
XM_005248347.2:c.8181T>C	XP_005248404.1:p.Tyr2727=
XM_005248349.2:c.8073T>C	XP_005248406.1:p.Tyr2691=
XM_005248350.2:c.8055T>C	XP_005248407.1:p.Tyr2685=
XM_005248353.3:c.4827T>C	XP_005248410.1:p.Tyr1609=
XM_006714489.2:c.8184T>C	XP_006714552.1:p.Tyr2728=
XM_006714491.2:c.2757T>C	XP_006714554.1:p.Tyr919=
XM_011514085.1:c.8184T>C	XP_011512387.1:p.Tyr2728=
XM_011514086.1:c.8184T>C	XP_011512388.1:p.Tyr2728=
XM_011514087.1:c.8130T>C	XP_011512389.1:p.Tyr2710=
XM_011514088.1:c.8076T>C	XP_011512390.1:p.Tyr2692=
XM_011514089.1:c.8184T>C	XP_011512391.1:p.Tyr2728=
XM_011514090.1:c.7866T>C	XP_011512392.1:p.Tyr2622=
XM_011514091.1:c.7512T>C	XP_011512393.1:p.Tyr2504=
XM_011514092.1:c.8184T>C	XP_011512394.1:p.Tyr2728=
XM_011514094.1:c.5409T>C	XP_011512396.1:p.Tyr1803=
XR_427661.2:n.8359T>C
XR_925644.1:n.8359T>C
XM_005248345.4:c.8184T>C	XP_005248402.1:p.Tyr2728=
XM_005248346.4:c.8181T>C	XP_005248403.1:p.Tyr2727=
XM_005248347.4:c.8181T>C	XP_005248404.1:p.Tyr2727=
XM_005248349.4:c.8073T>C	XP_005248406.1:p.Tyr2691=
XM_005248350.4:c.8055T>C	XP_005248407.1:p.Tyr2685=
XM_006714491.3:c.2757T>C	XP_006714554.1:p.Tyr919=
XM_011514085.3:c.8184T>C	XP_011512387.1:p.Tyr2728=
XM_011514086.3:c.8184T>C	XP_011512388.1:p.Tyr2728=
XM_011514087.2:c.8130T>C	XP_011512389.1:p.Tyr2710=
XM_011514088.2:c.8076T>C	XP_011512390.1:p.Tyr2692=
XM_011514089.2:c.8184T>C	XP_011512391.1:p.Tyr2728=
XM_011514090.3:c.7866T>C	XP_011512392.1:p.Tyr2622=
XM_011514092.2:c.8184T>C	XP_011512394.1:p.Tyr2728=
XM_011514094.2:c.5409T>C	XP_011512396.1:p.Tyr1803=
XM_017009760.1:c.7995T>C	XP_016865249.1:p.Tyr2665=
XM_017009761.2:c.7995T>C	XP_016865250.1:p.Tyr2665=
XM_017009763.1:c.7191T>C	XP_016865252.1:p.Tyr2397=
XM_017009765.1:c.6996T>C	XP_016865254.1:p.Tyr2332=
XM_017009766.1:c.4827T>C	XP_016865255.1:p.Tyr1609=
XM_024446183.1:c.7995T>C	XP_024301951.1:p.Tyr2665=
XM_024446184.1:c.7866T>C	XP_024301952.1:p.Tyr2622=
XM_024446185.1:c.7512T>C	XP_024301953.1:p.Tyr2504=
XM_024446186.1:c.7191T>C	XP_024301954.1:p.Tyr2397=
XR_001742208.1:n.8353T>C
XR_002956171.1:n.8299T>C
XR_925644.2:n.8408T>C
NM_001384732.1:c.8184T>C MANE Select	NP_001371661.1:p.Tyr2728=
NM_023073.4:c.8022T>C	NP_075561.3:p.Tyr2674=