Canonical Allele Identifier: CA2836031

Gene: EVC CRMP1

Linked Data

• ClinVar Variation Id: 1100579
• ClinVar RCV Id: RCV001423218
• dbSNP Id: rs750816331
• ExAC: 4:5754664 C / A
• gnomAD v2: 4-5754664-C-A
• gnomAD v4: 4-5752937-C-A
• MyVariant Identifiers: chr4:g.5754664C>A (hg19) ; chr4:g.5752937C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5752937C>A , CM000666.2:g.5752937C>A	GRCh38
NC_000004.11:g.5754664C>A , CM000666.1:g.5754664C>A	GRCh37
NC_000004.10:g.5805565C>A	NCBI36
NG_008843.1:g.46741C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264956.11:c.1200C>A (EVC) MANE Select	ENSP00000264956.6:p.Ile400=
ENST00000264956.10:c.1200C>A (EVC)	ENSP00000264956.6:p.Ile400=
ENST00000506216.5:n.1648-4625G>T (CRMP1)
ENST00000509451.1:c.1200C>A (EVC)	ENSP00000426774.1:p.Ile400=
ENST00000514919.1:n.263C>A (EVC)
NM_001306090.1:c.1200C>A (EVC)	NP_001293019.1:p.Ile400=
NM_001306092.1:c.1200C>A (EVC)	NP_001293021.1:p.Ile400=
NM_153717.2:c.1200C>A (EVC)	NP_714928.1:p.Ile400=
XM_006713865.2:c.1200C>A (EVC)	XP_006713928.1:p.Ile400=
XM_006713866.2:c.1200C>A (EVC)	XP_006713929.1:p.Ile400=
XM_011513419.1:c.1200C>A (EVC)	XP_011511721.1:p.Ile400=
XR_427473.2:n.1390C>A (EVC)
XR_427475.2:n.1390C>A (EVC)
XR_427476.2:n.1390C>A (EVC)
XR_924920.1:n.1390C>A (EVC)
XR_924921.1:n.1390C>A (EVC)
XR_924922.1:n.1390C>A (EVC)
XR_924923.1:n.1390C>A (EVC)
XR_924924.1:n.1390C>A (EVC)
XR_924925.1:n.1390C>A (EVC)
XR_924926.1:n.1390C>A (EVC)
XR_924927.1:n.1390C>A (EVC)
XR_924928.1:n.1392C>A (EVC)
XM_006713865.3:c.1200C>A (EVC)	XP_006713928.1:p.Ile400=
XM_006713866.3:c.1200C>A (EVC)	XP_006713929.1:p.Ile400=
XM_011513419.2:c.1200C>A (EVC)	XP_011511721.1:p.Ile400=
XM_017007883.2:c.1200C>A (EVC)	XP_016863372.1:p.Ile400=
XR_001741164.1:n.1380C>A (EVC)
XR_001741165.1:n.1380C>A (EVC)
XR_001741166.1:n.1380C>A (EVC)
XR_001741167.1:n.1380C>A (EVC)
XR_001741168.1:n.1380C>A (EVC)
XR_001741169.2:n.1244C>A (EVC)
XR_001741170.1:n.1382C>A (EVC)
XR_001741171.1:n.685C>A (EVC)
XR_427473.3:n.1380C>A (EVC)
XR_427475.3:n.1380C>A (EVC)
XR_427476.3:n.1380C>A (EVC)
XR_924920.2:n.1380C>A (EVC)
XR_924921.2:n.1380C>A (EVC)
XR_924922.2:n.1380C>A (EVC)
XR_924924.2:n.1380C>A (EVC)
XR_924925.2:n.1380C>A (EVC)
XR_924926.2:n.1380C>A (EVC)
NM_153717.3:c.1200C>A (EVC) MANE Select	NP_714928.1:p.Ile400=
NM_001306090.2:c.1200C>A (EVC)	NP_001293019.1:p.Ile400=
NM_001306092.2:c.1200C>A (EVC)	NP_001293021.1:p.Ile400=