Canonical Allele Identifier: CA9154761

Gene: CD320 ELAVL1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8304020C>T , CM000681.2:g.8304020C>T	GRCh38
NC_000019.9:g.8368904C>T , CM000681.1:g.8368904C>T	GRCh37
NC_000019.8:g.8274904C>T	NCBI36
NG_028124.1:g.9337G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016579.4:c.337G>A (CD320) MANE Select	NP_057663.1:p.Val113Ile
ENST00000301458.10:c.337G>A (CD320) MANE Select	ENSP00000301458.4:p.Val113Ile
NM_001165895.1:c.211G>A (CD320)	NP_001159367.1:p.Val71Ile
NM_001165895.2:c.211G>A (CD320)	NP_001159367.1:p.Val71Ile
NM_016579.3:c.337G>A (CD320)	NP_057663.1:p.Val113Ile
ENST00000301458.9:c.337G>A (CD320)	ENSP00000301458.4:p.Val113Ile
ENST00000351593.9:c.-87-42016G>A (ELAVL1)	ENSP00000264073.6:n.-87-42016G>A
ENST00000537716.6:c.211G>A (CD320)	ENSP00000437697.1:p.Val71Ile
ENST00000596002.5:c.*672-47G>A (CD320)	ENSP00000471773.1:n.*672-47G>A
ENST00000599573.1:c.250-47G>A (CD320)