Canonical Allele Identifier: CA8645148
Gene: COL1A1 HGNC NCBI
COSMIC:
COSN15662995 (not active)
MyVariant.info:
GRCh38 chr17:g.50194072A>G
GRCh37 chr17:g.48271433A>G
gnomAD v2:
17:48271433 A / G
gnomAD v3:
17:50194072 A / G
gnomAD v4:
chr17-50194072-A-G
Joint Max Group AF 0.71221529 (AMR)
Genomes Max Group AF 0.69361558 (AMR)
Exomes Max Group AF 0.71577487 (AMR)
ClinVar RCV:
RCV000834129
RCV001000206
ClinVar Variation:
674803
dbSNP:
1007086
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50194072A>G , CM000679.2:g.50194072A>G GRCh38
NC_000017.10:g.48271433A>G , CM000679.1:g.48271433A>G GRCh37
NC_000017.9:g.45626432A>G NCBI36
NG_007400.1:g.12568T>C , LRG_1:g.12568T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1669-31T>C MANE Select ENSP00000225964.6:n.1669-31T>C
ENST00000225964.9:c.1669-31T>C ENSP00000225964.5:n.1669-31T>C
ENST00000463440.1:n.59-31T>C
ENST00000471344.1:n.670T>C
NM_000088.3:c.1669-31T>C , LRG_1t1:c.1669-31T>C NP_000079.2:n.1669-31T>C
XM_005257058.3:c.1669-31T>C XP_005257115.2:n.1669-31T>C
XM_005257059.3:c.958-1379T>C XP_005257116.2:n.958-1379T>C
XM_011524341.1:c.1471-31T>C XP_011522643.1:n.1471-31T>C
XM_005257058.4:c.1669-31T>C XP_005257115.2:n.1669-31T>C
XM_005257059.4:c.958-1379T>C XP_005257116.2:n.958-1379T>C
NM_000088.4:c.1669-31T>C MANE Select NP_000079.2:n.1669-31T>C
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