Canonical Allele Identifier: CA2573051449

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1307249
• ClinVar RCV Id: RCV001760667
• dbSNP Id: rs2125088445

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090946_197090947delinsTG , CM000663.2:g.197090946_197090947delinsTG	GRCh38
NC_000001.10:g.197060076_197060077delinsTG , CM000663.1:g.197060076_197060077delinsTG	GRCh37
NC_000001.9:g.195326699_195326700delinsTG	NCBI36
NG_015867.1:g.60748_60749delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2826_2827delinsCA
ENST00000367409.9:c.9539_9540delinsCA MANE Select	ENSP00000356379.4:p.Gln3180Pro
ENST00000680265.1:c.9761_9762delinsCA	ENSP00000505384.1:p.Gln3254Pro
ENST00000680710.1:c.9515_9516delinsCA	ENSP00000506676.1:p.Gln3172Pro
ENST00000294732.11:c.4784_4785delinsCA	ENSP00000294732.7:p.Gln1595Pro
ENST00000367408.5:c.2534_2535delinsCA	ENSP00000356378.1:p.Gln845Pro
ENST00000367409.8:c.9539_9540delinsCA	ENSP00000356379.4:p.Gln3180Pro
ENST00000612785.1:c.3497_3498delinsCA	ENSP00000479244.1:p.Gln1166Pro
NM_001206846.1:c.4784_4785delinsCA	NP_001193775.1:p.Gln1595Pro
NM_018136.4:c.9539_9540delinsCA	NP_060606.3:p.Gln3180Pro
NM_018136.5:c.9539_9540delinsCA MANE Select	NP_060606.3:p.Gln3180Pro
NM_001206846.2:c.4784_4785delinsCA	NP_001193775.1:p.Gln1595Pro