Canonical Allele Identifier: CA2811084

Gene: LETM1

Linked Data

• ClinVar Variation Id: 712521
• ClinVar RCV Id: RCV000884493
• dbSNP Id: rs112919287
• ExAC: 4:1817466 T / G
• gnomAD v2: 4-1817466-T-G
• gnomAD v3: 4-1815739-T-G
• gnomAD v4: 4-1815739-T-G
• MyVariant Identifiers: chr4:g.1817466T>G (hg19) ; chr4:g.1815739T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1815739T>G , CM000666.2:g.1815739T>G	GRCh38
NC_000004.11:g.1817466T>G , CM000666.1:g.1817466T>G	GRCh37
NC_000004.10:g.1787264T>G	NCBI36
NG_013063.1:g.45509A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302787.3:c.1995A>C MANE Select	ENSP00000305653.2:p.Glu665Asp
ENST00000302787.2:c.1995A>C	ENSP00000305653.2:p.Glu665Asp
NM_012318.2:c.1995A>C	NP_036450.1:p.Glu665Asp
XM_005247970.3:c.1080A>C	XP_005248027.1:p.Glu360Asp
XM_006713884.1:c.1992A>C	XP_006713947.1:p.Glu664Asp
NM_012318.3:c.1995A>C MANE Select	NP_036450.1:p.Glu665Asp