Canonical Allele Identifier: CA11359867

Gene: SACM1L

Linked Data

• dbSNP Id: rs2742417
• gnomAD v2: 3-45731451-C-T
• gnomAD v3: 3-45689959-C-T
• gnomAD v4: 3-45689959-C-T
• MyVariant Identifiers: chr3:g.45731451C>T (hg19) ; chr3:g.45689959C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45689959C>T , CM000665.2:g.45689959C>T	GRCh38
NC_000003.11:g.45731451C>T , CM000665.1:g.45731451C>T	GRCh37
NC_000003.10:g.45706455C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438671.4:c.-63-389C>T	ENSP00000411966.2:n.-63-389C>T
ENST00000445499.3:c.32+462C>T	ENSP00000516561.1:n.32+462C>T
ENST00000463659.2:n.123+462C>T
ENST00000478586.4:c.-278+414C>T	ENSP00000516562.1:n.-278+414C>T
ENST00000706802.1:n.147-389C>T
ENST00000706803.1:c.-175+462C>T	ENSP00000516560.1:n.-175+462C>T
ENST00000706804.1:n.128+462C>T
ENST00000706805.1:n.128+462C>T
ENST00000706806.1:c.32+462C>T	ENSP00000516563.1:n.32+462C>T
ENST00000706807.1:c.32+462C>T	ENSP00000516564.1:n.32+462C>T
ENST00000706808.1:n.109+462C>T
ENST00000706809.1:n.109+462C>T
ENST00000706810.1:c.32+462C>T	ENSP00000516565.1:n.32+462C>T
ENST00000706811.1:c.32+462C>T	ENSP00000516566.1:n.32+462C>T
ENST00000706812.1:n.109+462C>T
ENST00000706813.1:c.32+462C>T	ENSP00000516567.1:n.32+462C>T
ENST00000706814.1:n.76+462C>T
ENST00000706815.1:c.32+462C>T	ENSP00000516568.1:n.32+462C>T
ENST00000706816.1:c.-317-389C>T	ENSP00000516569.1:n.-317-389C>T
ENST00000706817.1:c.-174+462C>T	ENSP00000516570.1:n.-174+462C>T
ENST00000706818.1:c.32+462C>T	ENSP00000516571.1:n.32+462C>T
ENST00000706819.1:n.63+462C>T
ENST00000706820.1:n.63+462C>T
ENST00000706821.1:c.32+462C>T	ENSP00000516572.1:n.32+462C>T
ENST00000706822.1:c.-317-389C>T	ENSP00000516573.1:n.-317-389C>T
ENST00000706823.1:n.45+462C>T
ENST00000706824.1:n.43+462C>T
ENST00000706825.1:c.-174+462C>T	ENSP00000516574.1:n.-174+462C>T
ENST00000389061.10:c.32+462C>T MANE Select	ENSP00000373713.4:n.32+462C>T
ENST00000672477.1:c.32+462C>T	ENSP00000500361.1:n.32+462C>T
ENST00000672858.2:c.32+462C>T	ENSP00000500542.2:n.32+462C>T
ENST00000389061.9:c.32+462C>T	ENSP00000373713.4:n.32+462C>T
ENST00000418611.5:c.-317-389C>T	ENSP00000396387.1:n.-317-389C>T
ENST00000438671.3:c.-63-389C>T	ENSP00000411966.1:n.-63-389C>T
ENST00000441228.5:c.32+462C>T	ENSP00000406263.1:n.32+462C>T
ENST00000445499.2:n.39+462C>T
ENST00000455997.5:c.-706C>T	ENSP00000389975.1:n.-706C>T
ENST00000463237.5:n.236+462C>T
ENST00000463347.5:n.142+462C>T
ENST00000464524.5:n.80-389C>T
ENST00000478586.3:n.87+414C>T
NM_014016.3:c.32+462C>T	NP_054735.3:n.32+462C>T
XM_011533499.1:c.-24+462C>T	XP_011531801.1:n.-24+462C>T
XM_011533500.1:c.-63-389C>T	XP_011531802.1:n.-63-389C>T
XR_940392.1:n.142+462C>T
NM_001319071.1:c.32+462C>T	NP_001306000.1:n.32+462C>T
NM_001319072.1:c.-24+462C>T	NP_001306001.1:n.-24+462C>T
NM_001319073.1:c.-317-389C>T	NP_001306002.1:n.-317-389C>T
NM_014016.4:c.32+462C>T	NP_054735.3:n.32+462C>T
XM_011533500.2:c.-63-389C>T	XP_011531802.1:n.-63-389C>T
XR_940392.3:n.102+462C>T
NM_014016.5:c.32+462C>T MANE Select	NP_054735.3:n.32+462C>T
NM_001319071.2:c.32+462C>T	NP_001306000.1:n.32+462C>T
NM_001319072.2:c.-24+462C>T	NP_001306001.1:n.-24+462C>T
NM_001319073.2:c.-317-389C>T	NP_001306002.1:n.-317-389C>T