Canonical Allele Identifier: CA026496

Gene: SARM1 SLC46A1

Linked Data

• ClinVar Variation Id: 854
• ClinVar RCV Id: RCV000000902 ; RCV000059710
• dbSNP Id: rs80338773
• ExAC: 17:26729295 G / A
• gnomAD v2: 17-26729295-G-A
• gnomAD v3: 17-28402277-G-A
• gnomAD v4: 17-28402277-G-A
• MyVariant Identifiers: chr17:g.26729295G>A (hg19) ; chr17:g.28402277G>A (hg38)
• PubMed: PMID:17446347 ; PMID:20301716

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28402277G>A , CM000679.2:g.28402277G>A	GRCh38
NC_000017.10:g.26729295G>A , CM000679.1:g.26729295G>A	GRCh37
NC_000017.9:g.23753422G>A	NCBI36
NG_013306.1:g.8934C>T , LRG_183:g.8934C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585482.6:c.*5991G>A (SARM1) MANE Select	ENSP00000468032.2:n.*5991G>A
ENST00000612814.5:c.1126C>T (SLC46A1) MANE Select	ENSP00000480703.1:p.Arg376Trp
ENST00000582735.1:c.206+2339C>T (SLC46A1)
ENST00000585482.5:c.*5991G>A (SARM1)	ENSP00000468032.2:n.*5991G>A
ENST00000612814.4:c.1126C>T (SLC46A1)	ENSP00000480703.1:p.Arg376Trp
ENST00000618626.1:c.1082-1511C>T (SLC46A1)	ENSP00000483652.1:n.1082-1511C>T
NM_001242366.2:c.1082-1511C>T (SLC46A1)	NP_001229295.1:n.1082-1511C>T
NM_080669.5:c.1126C>T (SLC46A1)	NP_542400.2:p.Arg376Trp
XM_005277786.2:c.1081+2339C>T (SLC46A1)	XP_005277843.1:n.1081+2339C>T
XM_005277786.3:c.1081+2339C>T (SLC46A1)	XP_005277843.1:n.1081+2339C>T
XM_017024110.1:c.904C>T (SLC46A1)	XP_016879599.1:p.Arg302Trp
NM_015077.4:c.*5991G>A (SARM1) MANE Select	NP_055892.2:n.*5991G>A
NM_080669.6:c.1126C>T (SLC46A1) MANE Select	NP_542400.2:p.Arg376Trp
NM_001242366.3:c.1082-1511C>T (SLC46A1)	NP_001229295.1:n.1082-1511C>T