Canonical Allele Identifier: CA347514529

Gene: SUCLG1

Linked Data

• MyVariant Identifiers: chr2:g.84652567G>A (hg19) ; chr2:g.84425443G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.84425443G>A , CM000664.2:g.84425443G>A	GRCh38
NC_000002.11:g.84652567G>A , CM000664.1:g.84652567G>A	GRCh37
NC_000002.10:g.84506078G>A	NCBI36
NG_016755.1:g.39020C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393868.7:c.986C>T MANE Select	ENSP00000377446.2:p.Pro329Leu
ENST00000651342.1:c.*426C>T	ENSP00000498471.1:n.*426C>T
ENST00000393868.6:c.986C>T	ENSP00000377446.2:p.Pro329Leu
ENST00000484365.1:n.1494C>T
ENST00000487809.1:n.733C>T
ENST00000491123.5:n.832C>T
NM_003849.3:c.986C>T	NP_003840.2:p.Pro329Leu
NM_003849.4:c.986C>T MANE Select	NP_003840.2:p.Pro329Leu