Canonical Allele Identifier: CA379370639

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6412948G>C (hg19) ; chr11:g.6391718G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391718G>C , CM000673.2:g.6391718G>C	GRCh38
NC_000011.9:g.6412948G>C , CM000673.1:g.6412948G>C	GRCh37
NC_000011.8:g.6369524G>C	NCBI36
NG_011780.1:g.6294G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.653G>C MANE Select	ENSP00000340409.4:p.Gly218Ala
ENST00000342245.8:c.653G>C	ENSP00000340409.4:p.Gly218Ala
ENST00000527275.5:c.650G>C	ENSP00000435350.1:p.Gly217Ala
ENST00000530395.1:c.-95-72G>C	ENSP00000431479.1:n.-95-72G>C
ENST00000531303.5:c.438+215G>C	ENSP00000432625.1:n.438+215G>C
ENST00000533123.5:c.653G>C	ENSP00000435950.1:p.Gly218Ala
ENST00000533196.1:n.375-288G>C
ENST00000534405.5:c.653G>C	ENSP00000434353.1:p.Gly218Ala
NM_000543.4:c.653G>C	NP_000534.3:p.Gly218Ala
NM_001007593.2:c.650G>C	NP_001007594.2:p.Gly217Ala
XM_005253075.3:c.653G>C	XP_005253132.1:p.Gly218Ala
XM_011520303.1:c.653G>C	XP_011518605.1:p.Gly218Ala
XM_011520304.1:c.653G>C	XP_011518606.1:p.Gly218Ala
XR_930886.1:n.951G>C
NM_001318087.1:c.653G>C	NP_001305016.1:p.Gly218Ala
NM_001318088.1:c.-309G>C	NP_001305017.1:n.-309G>C
NM_001365135.1:c.653G>C	NP_001352064.1:p.Gly218Ala
NR_027400.2:n.838G>C
NR_134502.1:n.623+215G>C
XM_011520304.2:c.653G>C	XP_011518606.1:p.Gly218Ala
XR_001747940.2:n.778G>C
XR_002957158.1:n.778G>C
NM_000543.5:c.653G>C MANE Select	NP_000534.3:p.Gly218Ala
NM_001007593.3:c.650G>C	NP_001007594.2:p.Gly217Ala
NM_001318087.2:c.653G>C	NP_001305016.1:p.Gly218Ala
NM_001318088.2:c.-309G>C	NP_001305017.1:n.-309G>C
NM_001365135.2:c.653G>C	NP_001352064.1:p.Gly218Ala
NR_027400.3:n.778G>C
NR_134502.2:n.563+215G>C