Canonical Allele Identifier: CA026495

Gene: SARM1 SLC46A1

Linked Data

• ClinVar Variation Id: 850
• ClinVar RCV Id: RCV000000898 ; RCV001851519 ; RCV002512627
• dbSNP Id: rs80338775
• gnomAD v2: 17-26729340-C-T
• gnomAD v3: 17-28402322-C-T
• gnomAD v4: 17-28402322-C-T
• MyVariant Identifiers: chr17:g.26729340C>T (hg19) ; chr17:g.28402322C>T (hg38)
• PubMed: PMID:11807405 ; PMID:17129779 ; PMID:20301716

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28402322C>T , CM000679.2:g.28402322C>T	GRCh38
NC_000017.10:g.26729340C>T , CM000679.1:g.26729340C>T	GRCh37
NC_000017.9:g.23753467C>T	NCBI36
NG_013306.1:g.8889G>A , LRG_183:g.8889G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585482.6:c.*6036C>T (SARM1) MANE Select	ENSP00000468032.2:n.*6036C>T
ENST00000612814.5:c.1082-1G>A (SLC46A1) MANE Select	ENSP00000480703.1:n.1082-1G>A
ENST00000582735.1:c.206+2294G>A (SLC46A1)
ENST00000585482.5:c.*6036C>T (SARM1)	ENSP00000468032.2:n.*6036C>T
ENST00000612814.4:c.1082-1G>A (SLC46A1)	ENSP00000480703.1:n.1082-1G>A
ENST00000618626.1:c.1082-1556G>A (SLC46A1)	ENSP00000483652.1:n.1082-1556G>A
NM_001242366.2:c.1082-1556G>A (SLC46A1)	NP_001229295.1:n.1082-1556G>A
NM_080669.5:c.1082-1G>A (SLC46A1)	NP_542400.2:n.1082-1G>A
XM_005277786.2:c.1081+2294G>A (SLC46A1)	XP_005277843.1:n.1081+2294G>A
XM_005277786.3:c.1081+2294G>A (SLC46A1)	XP_005277843.1:n.1081+2294G>A
XM_017024110.1:c.860-1G>A (SLC46A1)	XP_016879599.1:n.860-1G>A
NM_015077.4:c.*6036C>T (SARM1) MANE Select	NP_055892.2:n.*6036C>T
NM_080669.6:c.1082-1G>A (SLC46A1) MANE Select	NP_542400.2:n.1082-1G>A
NM_001242366.3:c.1082-1556G>A (SLC46A1)	NP_001229295.1:n.1082-1556G>A