Canonical Allele Identifier: CA527409183

Gene: RABGAP1L

Linked Data

• dbSNP Id: rs1384200082
• gnomAD v2: 1-174552829-G-A
• gnomAD v3: 1-174583691-G-A
• gnomAD v4: 1-174583691-G-A
• MyVariant Identifiers: chr1:g.174552829G>A (hg19) ; chr1:g.174583691G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.174583691G>A , CM000663.2:g.174583691G>A	GRCh38
NC_000001.10:g.174552829G>A , CM000663.1:g.174552829G>A	GRCh37
NC_000001.9:g.172819452G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000681986.1:c.1711-53684G>A MANE Select	ENSP00000507884.1:n.1711-53684G>A
ENST00000251507.8:c.1711-53684G>A	ENSP00000251507.4:n.1711-53684G>A
ENST00000526253.1:n.326-53684G>A
NM_014857.4:c.1711-53684G>A	NP_055672.3:n.1711-53684G>A
XM_005245680.1:c.1711-53684G>A	XP_005245737.1:n.1711-53684G>A
XM_005245681.1:c.1600-53684G>A	XP_005245738.1:n.1600-53684G>A
XM_006711693.1:c.1711-53684G>A	XP_006711756.1:n.1711-53684G>A
XM_011510223.1:c.1711-53684G>A	XP_011508525.1:n.1711-53684G>A
XR_922003.1:n.1918-53684G>A
XR_922004.1:n.1918-53684G>A
NM_001366446.1:c.1711-53684G>A MANE Select	NP_001353375.1:n.1711-53684G>A
NM_001366447.1:c.1600-53684G>A	NP_001353376.1:n.1600-53684G>A
NM_001366448.1:c.1711-53684G>A	NP_001353377.1:n.1711-53684G>A
NR_158982.1:n.1882-53684G>A
XM_005245681.2:c.1600-53684G>A	XP_005245738.1:n.1600-53684G>A
XM_011510223.2:c.1711-53684G>A	XP_011508525.1:n.1711-53684G>A
NM_014857.5:c.1711-53684G>A	NP_055672.3:n.1711-53684G>A