Canonical Allele Identifier: CA136206794
Gene: CARMIL1 HGNC NCBI

Linked Data

dbSNP Id: rs742132
gnomAD v2: 6-25607571-A-G
gnomAD v3: 6-25607343-A-G
gnomAD v4: 6-25607343-A-G
MyVariant Identifiers: chr6:g.25607571A>G (hg19) chr6:g.25607343A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.25607343A>G , CM000668.2:g.25607343A>G GRCh38
NC_000006.11:g.25607571A>G , CM000668.1:g.25607571A>G GRCh37
NC_000006.10:g.25715550A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000700669.1:c.3829+1070A>G ENSP00000515137.1:n.3829+1070A>G
ENST00000329474.7:c.3847+1070A>G MANE Select ENSP00000331983.6:n.3847+1070A>G
ENST00000329474.6:c.3847+1070A>G ENSP00000331983.6:n.3847+1070A>G
ENST00000635618.1:c.2647+1070A>G ENSP00000489114.1:n.2647+1070A>G
NM_001173977.1:c.3829+1070A>G NP_001167448.1:n.3829+1070A>G
NM_017640.5:c.3847+1070A>G NP_060110.4:n.3847+1070A>G
XM_005249218.1:c.3847+1070A>G XP_005249275.1:n.3847+1070A>G
XM_011514732.1:c.3847+1070A>G XP_011513034.1:n.3847+1070A>G
XM_011514733.1:c.3829+1070A>G XP_011513035.1:n.3829+1070A>G
XM_011514734.1:c.3787+1070A>G XP_011513036.1:n.3787+1070A>G
XM_017011008.1:c.3877+1070A>G XP_016866497.1:n.3877+1070A>G
XM_017011009.1:c.3877+1070A>G XP_016866498.1:n.3877+1070A>G
XM_017011010.1:c.3865+1070A>G XP_016866499.1:n.3865+1070A>G
XM_017011011.1:c.3859+1070A>G XP_016866500.1:n.3859+1070A>G
XM_017011012.1:c.3859+1070A>G XP_016866501.1:n.3859+1070A>G
XM_017011013.1:c.3841+1070A>G XP_016866502.1:n.3841+1070A>G
XM_017011014.1:c.3817+1070A>G XP_016866503.1:n.3817+1070A>G
XM_017011015.1:c.3877+1070A>G XP_016866504.1:n.3877+1070A>G
XM_017011016.1:c.3859+1070A>G XP_016866505.1:n.3859+1070A>G
XM_024446484.1:c.3859+1070A>G XP_024302252.1:n.3859+1070A>G
XM_024446485.1:c.3859+1070A>G XP_024302253.1:n.3859+1070A>G
NM_017640.6:c.3847+1070A>G MANE Select NP_060110.4:n.3847+1070A>G
NM_001173977.2:c.3829+1070A>G NP_001167448.1:n.3829+1070A>G
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