Canonical Allele Identifier: CA343998373

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057498A>G (hg19) ; chr1:g.197088368A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088368A>G , CM000663.2:g.197088368A>G	GRCh38
NC_000001.10:g.197057498A>G , CM000663.1:g.197057498A>G	GRCh37
NC_000001.9:g.195324121A>G	NCBI36
NG_015867.1:g.63327T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3336T>C
ENST00000367409.9:c.10049T>C MANE Select	ENSP00000356379.4:p.Leu3350Ser
ENST00000680265.1:c.10271T>C	ENSP00000505384.1:p.Leu3424Ser
ENST00000680710.1:c.10025T>C	ENSP00000506676.1:p.Leu3342Ser
ENST00000294732.11:c.5294T>C	ENSP00000294732.7:p.Leu1765Ser
ENST00000367408.5:c.3044T>C	ENSP00000356378.1:p.Leu1015Ser
ENST00000367409.8:c.10049T>C	ENSP00000356379.4:p.Leu3350Ser
ENST00000612785.1:c.4007T>C	ENSP00000479244.1:p.Leu1336Ser
NM_001206846.1:c.5294T>C	NP_001193775.1:p.Leu1765Ser
NM_018136.4:c.10049T>C	NP_060606.3:p.Leu3350Ser
NM_018136.5:c.10049T>C MANE Select	NP_060606.3:p.Leu3350Ser
NM_001206846.2:c.5294T>C	NP_001193775.1:p.Leu1765Ser