Canonical Allele Identifier: CA344037555

Gene: ASPM

Linked Data

• gnomAD v4: 1-197121941-G-C
• MyVariant Identifiers: chr1:g.197091071G>C (hg19) ; chr1:g.197121941G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197121941G>C , CM000663.2:g.197121941G>C	GRCh38
NC_000001.10:g.197091071G>C , CM000663.1:g.197091071G>C	GRCh37
NC_000001.9:g.195357694G>C	NCBI36
NG_015867.1:g.29754C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1886C>G
ENST00000367409.9:c.3844C>G MANE Select	ENSP00000356379.4:p.Leu1282Val
ENST00000680112.1:n.1900C>G
ENST00000680265.1:c.3844C>G	ENSP00000505384.1:p.Leu1282Val
ENST00000680710.1:c.3844C>G	ENSP00000506676.1:p.Leu1282Val
ENST00000681879.1:c.3844C>G	ENSP00000505363.1:p.Leu1282Val
ENST00000294732.11:c.3844C>G	ENSP00000294732.7:p.Leu1282Val
ENST00000367408.5:c.1594C>G	ENSP00000356378.1:p.Leu532Val
ENST00000367409.8:c.3844C>G	ENSP00000356379.4:p.Leu1282Val
ENST00000612785.1:c.562-19294C>G	ENSP00000479244.1:n.562-19294C>G
NM_001206846.1:c.3844C>G	NP_001193775.1:p.Leu1282Val
NM_018136.4:c.3844C>G	NP_060606.3:p.Leu1282Val
NM_018136.5:c.3844C>G MANE Select	NP_060606.3:p.Leu1282Val
NM_001206846.2:c.3844C>G	NP_001193775.1:p.Leu1282Val