Canonical Allele Identifier: CA16608529
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 392573
ClinVar RCV Id: RCV000441682
dbSNP Id: rs1057524547
MyVariant Identifiers: chr17:g.48269889C>T (hg19) chr17:g.50192528C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50192528C>T , CM000679.2:g.50192528C>T GRCh38
NC_000017.10:g.48269889C>T , CM000679.1:g.48269889C>T GRCh37
NC_000017.9:g.45624888C>T NCBI36
NG_007400.1:g.14112G>A , LRG_1:g.14112G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.1930G>A MANE Select ENSP00000225964.6:p.Gly644Ser
ENST00000225964.9:c.1930G>A ENSP00000225964.5:p.Gly644Ser
ENST00000476387.1:n.279G>A
NM_000088.3:c.1930G>A , LRG_1t1:c.1930G>A NP_000079.2:p.Gly644Ser
XM_005257058.3:c.1930G>A XP_005257115.2:p.Gly644Ser
XM_005257059.3:c.1012G>A XP_005257116.2:p.Gly338Ser
XM_011524341.1:c.1732G>A XP_011522643.1:p.Gly578Ser
XM_005257058.4:c.1930G>A XP_005257115.2:p.Gly644Ser
XM_005257059.4:c.1012G>A XP_005257116.2:p.Gly338Ser
NM_000088.4:c.1930G>A MANE Select NP_000079.2:p.Gly644Ser
Search 100 bp 5'
Search 100 bp 3'