Canonical Allele Identifier: CA399638129

Gene: CNTNAP1

Linked Data

• MyVariant Identifiers: chr17:g.40839913T>A (hg19) ; chr17:g.42687895T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42687895T>A , CM000679.2:g.42687895T>A	GRCh38
NC_000017.10:g.40839913T>A , CM000679.1:g.40839913T>A	GRCh37
NC_000017.9:g.38093439T>A	NCBI36
NG_042091.1:g.10282T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1220T>A MANE Select	ENSP00000264638.3:p.Leu407Gln
ENST00000264638.8:c.1220T>A	ENSP00000264638.3:p.Leu407Gln
ENST00000586801.1:n.635T>A
ENST00000591662.1:c.1220T>A	ENSP00000466571.1:p.Leu407Gln
NM_003632.2:c.1220T>A	NP_003623.1:p.Leu407Gln
XM_005257748.3:c.992T>A	XP_005257805.1:p.Leu331Gln
XM_005257748.4:c.992T>A	XP_005257805.1:p.Leu331Gln
XM_017025238.1:c.1220T>A	XP_016880727.1:p.Leu407Gln
XM_024451011.1:c.1220T>A	XP_024306779.1:p.Leu407Gln
NM_003632.3:c.1220T>A MANE Select	NP_003623.1:p.Leu407Gln