Canonical Allele Identifier: CA8644231
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2683433
ClinVar RCV Id: RCV003480253
dbSNP Id: rs760860681
ExAC: 17:48263186 C / T
gnomAD v2: 17-48263186-C-T
gnomAD v4: 17-50185825-C-T
COSMIC: COSM4673633
MyVariant Identifiers: chr17:g.48263186C>T (hg19) chr17:g.50185825C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185825C>T , CM000679.2:g.50185825C>T GRCh38
NC_000017.10:g.48263186C>T , CM000679.1:g.48263186C>T GRCh37
NC_000017.9:g.45618185C>T NCBI36
NG_007400.1:g.20815G>A , LRG_1:g.20815G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4201G>A MANE Select ENSP00000225964.6:p.Glu1401Lys
ENST00000225964.9:c.4201G>A ENSP00000225964.5:p.Glu1401Lys
NM_000088.3:c.4201G>A , LRG_1t1:c.4201G>A NP_000079.2:p.Glu1401Lys
XM_005257058.3:c.3931G>A XP_005257115.2:p.Glu1311Lys
XM_005257059.3:c.3283G>A XP_005257116.2:p.Glu1095Lys
XM_011524341.1:c.4003G>A XP_011522643.1:p.Glu1335Lys
XM_005257058.4:c.3931G>A XP_005257115.2:p.Glu1311Lys
XM_005257059.4:c.3283G>A XP_005257116.2:p.Glu1095Lys
NM_000088.4:c.4201G>A MANE Select NP_000079.2:p.Glu1401Lys
Search 100 bp 5'
Search 100 bp 3'