Canonical Allele Identifier: CA379370470

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391699G>C , CM000673.2:g.6391699G>C	GRCh38
NC_000011.9:g.6412929G>C , CM000673.1:g.6412929G>C	GRCh37
NC_000011.8:g.6369505G>C	NCBI36
NG_011780.1:g.6275G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.634G>C MANE Select	NP_000534.3:p.Asp212His
ENST00000342245.9:c.634G>C MANE Select	ENSP00000340409.4:p.Asp212His
NM_000543.4:c.634G>C	NP_000534.3:p.Asp212His
NM_001007593.2:c.631G>C	NP_001007594.2:p.Asp211His
NM_001007593.3:c.631G>C	NP_001007594.2:p.Asp211His
NM_001318087.1:c.634G>C	NP_001305016.1:p.Asp212His
NM_001318087.2:c.634G>C	NP_001305016.1:p.Asp212His
NM_001318088.1:c.-328G>C	NP_001305017.1:n.-328G>C
NM_001318088.2:c.-328G>C	NP_001305017.1:n.-328G>C
NM_001365135.1:c.634G>C	NP_001352064.1:p.Asp212His
NM_001365135.2:c.634G>C	NP_001352064.1:p.Asp212His
NR_027400.2:n.819G>C
NR_027400.3:n.759G>C
NR_134502.1:n.623+196G>C
NR_134502.2:n.563+196G>C
ENST00000342245.8:c.634G>C	ENSP00000340409.4:p.Asp212His
ENST00000527275.5:c.631G>C	ENSP00000435350.1:p.Asp211His
ENST00000530395.1:c.-95-91G>C	ENSP00000431479.1:n.-95-91G>C
ENST00000531303.5:c.438+196G>C	ENSP00000432625.1:n.438+196G>C
ENST00000533123.5:c.634G>C	ENSP00000435950.1:p.Asp212His
ENST00000533196.1:n.375-307G>C
ENST00000534405.5:c.634G>C	ENSP00000434353.1:p.Asp212His
XM_005253075.3:c.634G>C	XP_005253132.1:p.Asp212His
XM_011520303.1:c.634G>C	XP_011518605.1:p.Asp212His
XM_011520304.1:c.634G>C	XP_011518606.1:p.Asp212His
XM_011520304.2:c.634G>C	XP_011518606.1:p.Asp212His
XR_001747940.2:n.759G>C
XR_002957158.1:n.759G>C
XR_930886.1:n.932G>C