Canonical Allele Identifier: CA500089385

Gene: CNTNAP1 CCR10

Linked Data

• dbSNP Id: rs1255598931
• gnomAD v2: 17-40834913-C-T
• gnomAD v4: 17-42682895-C-T
• MyVariant Identifiers: chr17:g.40834913C>T (hg19) ; chr17:g.42682895C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42682895C>T , CM000679.2:g.42682895C>T	GRCh38
NC_000017.10:g.40834913C>T , CM000679.1:g.40834913C>T	GRCh37
NC_000017.9:g.38088439C>T	NCBI36
NG_042091.1:g.5282C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.66C>T (CNTNAP1) MANE Select	ENSP00000264638.3:p.Tyr22=
ENST00000264638.8:c.66C>T (CNTNAP1)	ENSP00000264638.3:p.Tyr22=
ENST00000591568.1:c.-643+921G>A (CCR10)	ENSP00000467331.1:n.-643+921G>A
ENST00000591662.1:c.66C>T (CNTNAP1)	ENSP00000466571.1:p.Tyr22=
ENST00000591765.1:c.-1217G>A (CCR10)	ENSP00000468135.1:n.-1217G>A
NM_003632.2:c.66C>T (CNTNAP1)	NP_003623.1:p.Tyr22=
XM_005257748.4:c.-955C>T (CNTNAP1)	XP_005257805.1:n.-955C>T
XM_017025238.1:c.66C>T (CNTNAP1)	XP_016880727.1:p.Tyr22=
XM_024451011.1:c.66C>T (CNTNAP1)	XP_024306779.1:p.Tyr22=
NM_003632.3:c.66C>T (CNTNAP1) MANE Select	NP_003623.1:p.Tyr22=