Canonical Allele Identifier: CA223396205

Gene: CPT1A

Linked Data

• dbSNP Id: rs977843311
• gnomAD v2: 11-68574927-G-A
• gnomAD v3: 11-68807459-G-A
• gnomAD v4: 11-68807459-G-A
• MyVariant Identifiers: chr11:g.68574927G>A (hg19) ; chr11:g.68807459G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68807459G>A , CM000673.2:g.68807459G>A	GRCh38
NC_000011.9:g.68574927G>A , CM000673.1:g.68574927G>A	GRCh37
NC_000011.8:g.68331503G>A	NCBI36
NG_011801.1:g.39473C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265641.10:c.453+8C>T MANE Select	ENSP00000265641.4:n.453+8C>T
ENST00000265641.9:c.453+8C>T	ENSP00000265641.4:n.453+8C>T
ENST00000376618.6:c.453+8C>T	ENSP00000365803.2:n.453+8C>T
ENST00000539743.5:c.453+8C>T	ENSP00000446108.1:n.453+8C>T
ENST00000540367.5:c.453+8C>T	ENSP00000439084.1:n.453+8C>T
NM_001031847.2:c.453+8C>T	NP_001027017.1:n.453+8C>T
NM_001876.3:c.453+8C>T	NP_001867.2:n.453+8C>T
XM_005273762.1:c.549+8C>T	XP_005273819.1:n.549+8C>T
XM_005273763.1:c.549+8C>T	XP_005273820.1:n.549+8C>T
XM_005273762.3:c.549+8C>T	XP_005273819.1:n.549+8C>T
XM_017017220.1:c.453+8C>T	XP_016872709.1:n.453+8C>T
NM_001876.4:c.453+8C>T MANE Select	NP_001867.2:n.453+8C>T
NM_001031847.3:c.453+8C>T	NP_001027017.1:n.453+8C>T