Canonical Allele Identifier: CA1950145508

Gene: SMPD1

Linked Data

• dbSNP Id: rs1847844785

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390443_6390465dup , CM000673.2:g.6390443_6390465dup	GRCh38
NC_000011.9:g.6411673_6411695dup , CM000673.1:g.6411673_6411695dup	GRCh37
NC_000011.8:g.6368249_6368271dup	NCBI36
NG_011780.1:g.5019_5041dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.8:c.-156_-134dup	ENSP00000340409.4:n.-156_-134dup
ENST00000533196.1:n.4_26dup
NM_000543.4:c.-156_-134dup	NP_000534.3:n.-156_-134dup
NM_001007593.2:c.-156_-134dup	NP_001007594.2:n.-156_-134dup
XM_005253075.3:c.-156_-134dup	XP_005253132.1:n.-156_-134dup
XM_011520303.1:c.-156_-134dup	XP_011518605.1:n.-156_-134dup
XM_011520304.1:c.-156_-134dup	XP_011518606.1:n.-156_-134dup
XR_930886.1:n.143_165dup
NM_001318087.1:c.-156_-134dup	NP_001305016.1:n.-156_-134dup
NM_001318088.1:c.-1117_-1095dup	NP_001305017.1:n.-1117_-1095dup
NR_027400.2:n.30_52dup
NR_134502.1:n.30_52dup