Canonical Allele Identifier: CA394912572

Gene: ARL6IP1

Linked Data

• ClinVar Variation Id: 3065376
• ClinVar RCV Id: RCV003990453
• gnomAD v4: 16-18798025-G-C
• MyVariant Identifiers: chr16:g.18809347G>C (hg19) ; chr16:g.18798025G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.18798025G>C , CM000678.2:g.18798025G>C	GRCh38
NC_000016.9:g.18809347G>C , CM000678.1:g.18809347G>C	GRCh37
NC_000016.8:g.18716848G>C	NCBI36
NG_042860.1:g.8654C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304414.12:c.190C>G MANE Select	ENSP00000306788.7:p.Pro64Ala
ENST00000304414.11:c.190C>G	ENSP00000306788.7:p.Pro64Ala
ENST00000546206.6:c.103C>G	ENSP00000440048.2:p.Pro35Ala
ENST00000562234.2:c.149-73C>G	ENSP00000455341.2:n.149-73C>G
ENST00000562819.5:c.148+698C>G	ENSP00000457372.1:n.148+698C>G
ENST00000563861.5:c.190C>G	ENSP00000456596.1:p.Pro64Ala
ENST00000567078.2:c.190C>G	ENSP00000454746.2:p.Pro64Ala
ENST00000567969.1:n.268C>G
ENST00000569976.5:n.272C>G
NM_001313858.1:c.103C>G	NP_001300787.1:p.Pro35Ala
NM_015161.1:c.190C>G	NP_055976.1:p.Pro64Ala
NM_015161.2:c.190C>G	NP_055976.1:p.Pro64Ala
NM_015161.3:c.190C>G MANE Select	NP_055976.1:p.Pro64Ala