Canonical Allele Identifier: CA340392709

Gene: CPT2

Linked Data

• MyVariant Identifiers: chr1:g.53675913G>C (hg19) ; chr1:g.53210241G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210241G>C , CM000663.2:g.53210241G>C	GRCh38
NC_000001.10:g.53675913G>C , CM000663.1:g.53675913G>C	GRCh37
NC_000001.9:g.53448501G>C	NCBI36
NG_008035.1:g.18813G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.567G>C MANE Select	ENSP00000360541.3:p.Lys189Asn
ENST00000635862.1:c.567G>C	ENSP00000490867.1:p.Lys189Asn
ENST00000635888.1:c.*553G>C	ENSP00000490042.1:n.*553G>C
ENST00000636239.1:c.*214G>C	ENSP00000490066.1:n.*214G>C
ENST00000636867.1:c.567G>C	ENSP00000489631.1:p.Lys189Asn
ENST00000636891.1:c.567G>C	ENSP00000490399.1:p.Lys189Asn
ENST00000636935.1:c.341-3023G>C	ENSP00000489757.1:n.341-3023G>C
ENST00000637252.1:c.567G>C	ENSP00000490492.1:p.Lys189Asn
ENST00000637726.1:n.2767G>C
ENST00000638135.1:c.*214G>C	ENSP00000489756.1:n.*214G>C
ENST00000371486.3:c.567G>C	ENSP00000360541.3:p.Lys189Asn
NM_000098.2:c.567G>C	NP_000089.1:p.Lys189Asn
XM_005270484.1:c.567G>C	XP_005270541.1:p.Lys189Asn
NM_001330589.1:c.567G>C	NP_001317518.1:p.Lys189Asn
NM_000098.3:c.567G>C MANE Select	NP_000089.1:p.Lys189Asn
NM_001330589.2:c.567G>C	NP_001317518.1:p.Lys189Asn