Canonical Allele Identifier: CA8645053
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50192789A>T
GRCh37 chr17:g.48270150A>T
gnomAD v2:
17:48270150 A / T
gnomAD v4:
chr17-50192789-A-T
Joint Max Group AF 0.00004182 (NFE)
Exomes Max Group AF 0.00004438 (NFE)
ClinVar RCV:
RCV000423444
RCV002063629
ClinVar Variation:
392254
dbSNP:
756572885
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50192789A>T , CM000679.2:g.50192789A>T GRCh38
NC_000017.10:g.48270150A>T , CM000679.1:g.48270150A>T GRCh37
NC_000017.9:g.45625149A>T NCBI36
NG_007400.1:g.13851T>A , LRG_1:g.13851T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1875+8T>A MANE Select ENSP00000225964.6:n.1875+8T>A
ENST00000225964.9:c.1875+8T>A ENSP00000225964.5:n.1875+8T>A
ENST00000476387.1:n.224+8T>A
NM_000088.3:c.1875+8T>A , LRG_1t1:c.1875+8T>A NP_000079.2:n.1875+8T>A
XM_005257058.3:c.1875+8T>A XP_005257115.2:n.1875+8T>A
XM_005257059.3:c.958-96T>A XP_005257116.2:n.958-96T>A
XM_011524341.1:c.1677+8T>A XP_011522643.1:n.1677+8T>A
XM_005257058.4:c.1875+8T>A XP_005257115.2:n.1875+8T>A
XM_005257059.4:c.958-96T>A XP_005257116.2:n.958-96T>A
NM_000088.4:c.1875+8T>A MANE Select NP_000079.2:n.1875+8T>A
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