Canonical Allele Identifier: CA438205513

Gene: EVC CRMP1

Linked Data

• ClinVar Variation Id: 2953903
• ClinVar RCV Id: RCV003813126
• dbSNP Id: rs1323503221
• gnomAD v2: 4-5809932-C-T
• gnomAD v4: 4-5808205-C-T
• MyVariant Identifiers: chr4:g.5809932C>T (hg19) ; chr4:g.5808205C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5808205C>T , CM000666.2:g.5808205C>T	GRCh38
NC_000004.11:g.5809932C>T , CM000666.1:g.5809932C>T	GRCh37
NC_000004.10:g.5860833C>T	NCBI36
NG_008843.1:g.102009C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264956.11:c.2566C>T (EVC) MANE Select	ENSP00000264956.6:p.Leu856=
ENST00000264956.10:c.2566C>T (EVC)	ENSP00000264956.6:p.Leu856=
ENST00000506216.5:n.1647+17289G>A (CRMP1)
NM_001306090.1:c.2566C>T (EVC)	NP_001293019.1:p.Leu856=
NM_153717.2:c.2566C>T (EVC)	NP_714928.1:p.Leu856=
XM_006713865.2:c.2566C>T (EVC)	XP_006713928.1:p.Leu856=
XM_006713866.2:c.2566C>T (EVC)	XP_006713929.1:p.Leu856=
XR_427473.2:n.2756C>T (EVC)
XR_427475.2:n.2756C>T (EVC)
XR_427476.2:n.2756C>T (EVC)
XR_924920.1:n.2756C>T (EVC)
XR_924921.1:n.2756C>T (EVC)
XR_924922.1:n.2756C>T (EVC)
XR_924923.1:n.2756C>T (EVC)
XR_924924.1:n.2756C>T (EVC)
XR_924925.1:n.2756C>T (EVC)
XR_924926.1:n.2756C>T (EVC)
XR_924927.1:n.2756C>T (EVC)
XM_006713865.3:c.2566C>T (EVC)	XP_006713928.1:p.Leu856=
XM_006713866.3:c.2566C>T (EVC)	XP_006713929.1:p.Leu856=
XR_001741164.1:n.2746C>T (EVC)
XR_001741165.1:n.2746C>T (EVC)
XR_001741166.1:n.2746C>T (EVC)
XR_001741167.1:n.2746C>T (EVC)
XR_001741168.1:n.2746C>T (EVC)
XR_001741169.2:n.2610C>T (EVC)
XR_001741170.1:n.2831C>T (EVC)
XR_001741171.1:n.2051C>T (EVC)
XR_427473.3:n.2746C>T (EVC)
XR_427475.3:n.2746C>T (EVC)
XR_427476.3:n.2746C>T (EVC)
XR_924920.2:n.2746C>T (EVC)
XR_924921.2:n.2746C>T (EVC)
XR_924922.2:n.2746C>T (EVC)
XR_924924.2:n.2746C>T (EVC)
XR_924925.2:n.2746C>T (EVC)
XR_924926.2:n.2746C>T (EVC)
NM_153717.3:c.2566C>T (EVC) MANE Select	NP_714928.1:p.Leu856=
NM_001306090.2:c.2566C>T (EVC)	NP_001293019.1:p.Leu856=