Canonical Allele Identifier: CA29532829

Gene: LYSMD1 SCNM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151161872C>G , CM000663.2:g.151161872C>G	GRCh38
NC_000001.10:g.151134348C>G , CM000663.1:g.151134348C>G	GRCh37
NC_000001.9:g.149400972C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_212551.5:c.409G>C (LYSMD1) MANE Select	NP_997716.1:p.Val137Leu
ENST00000368908.10:c.409G>C (LYSMD1) MANE Select	ENSP00000357904.5:p.Val137Leu
NM_001136543.1:c.265G>C (LYSMD1)	NP_001130015.1:p.Val89Leu
NM_001136543.2:c.265G>C (LYSMD1)	NP_001130015.1:p.Val89Leu
NM_001204848.1:c.-54-4599C>G	NP_001191777.1:n.-54-4599C>G
NM_001204848.2:c.-54-4599C>G	NP_001191777.1:n.-54-4599C>G
NM_212551.4:c.409G>C (LYSMD1)	NP_997716.1:p.Val137Leu
NR_144937.1:n.95-4599C>G
NR_144937.2:n.75-4599C>G
ENST00000368908.9:c.409G>C (LYSMD1)	ENSP00000357904.5:p.Val137Leu
ENST00000440902.2:c.265G>C (LYSMD1)	ENSP00000404059.2:p.Val89Leu
ENST00000602841.5:c.-54-4599C>G (SCNM1)	ENSP00000473282.1:n.-54-4599C>G
XR_001737165.2:n.442G>C (LYSMD1)
XR_001737166.2:n.442G>C (LYSMD1)
XR_001737167.1:n.325G>C (LYSMD1)
XR_921777.1:n.1045G>C (LYSMD1)