Canonical Allele Identifier: CA136190036

Gene: CARMIL1

Linked Data

• dbSNP Id: rs1025603104
• gnomAD v3: 6-25533378-A-G
• gnomAD v4: 6-25533378-A-G
• MyVariant Identifiers: chr6:g.25533606A>G (hg19) ; chr6:g.25533378A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25533378A>G , CM000668.2:g.25533378A>G	GRCh38
NC_000006.11:g.25533606A>G , CM000668.1:g.25533606A>G	GRCh37
NC_000006.10:g.25641585A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000700669.1:c.2068-4477A>G	ENSP00000515137.1:n.2068-4477A>G
ENST00000329474.7:c.2068-4477A>G MANE Select	ENSP00000331983.6:n.2068-4477A>G
ENST00000329474.6:c.2068-4477A>G	ENSP00000331983.6:n.2068-4477A>G
ENST00000635618.1:c.850-4477A>G	ENSP00000489114.1:n.850-4477A>G
NM_001173977.1:c.2068-4477A>G	NP_001167448.1:n.2068-4477A>G
NM_017640.5:c.2068-4477A>G	NP_060110.4:n.2068-4477A>G
XM_005249218.1:c.2068-4477A>G	XP_005249275.1:n.2068-4477A>G
XM_011514732.1:c.2068-4477A>G	XP_011513034.1:n.2068-4477A>G
XM_011514733.1:c.2068-4477A>G	XP_011513035.1:n.2068-4477A>G
XM_011514734.1:c.2008-4477A>G	XP_011513036.1:n.2008-4477A>G
XM_011514735.1:c.2068-4477A>G	XP_011513037.1:n.2068-4477A>G
XM_011514736.1:c.2068-4477A>G	XP_011513038.1:n.2068-4477A>G
XM_011514737.1:c.2068-4477A>G	XP_011513039.1:n.2068-4477A>G
XM_017011008.1:c.2080-4477A>G	XP_016866497.1:n.2080-4477A>G
XM_017011009.1:c.2080-4477A>G	XP_016866498.1:n.2080-4477A>G
XM_017011010.1:c.2068-4477A>G	XP_016866499.1:n.2068-4477A>G
XM_017011011.1:c.2080-4477A>G	XP_016866500.1:n.2080-4477A>G
XM_017011012.1:c.2080-4477A>G	XP_016866501.1:n.2080-4477A>G
XM_017011013.1:c.2080-4477A>G	XP_016866502.1:n.2080-4477A>G
XM_017011014.1:c.2020-4477A>G	XP_016866503.1:n.2020-4477A>G
XM_017011015.1:c.2080-4477A>G	XP_016866504.1:n.2080-4477A>G
XM_017011016.1:c.2080-4477A>G	XP_016866505.1:n.2080-4477A>G
XM_017011017.1:c.2080-4477A>G	XP_016866506.1:n.2080-4477A>G
XM_024446484.1:c.2080-4477A>G	XP_024302252.1:n.2080-4477A>G
XM_024446485.1:c.2080-4477A>G	XP_024302253.1:n.2080-4477A>G
NM_017640.6:c.2068-4477A>G MANE Select	NP_060110.4:n.2068-4477A>G
NM_001173977.2:c.2068-4477A>G	NP_001167448.1:n.2068-4477A>G