Canonical Allele Identifier: CA400217714
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1803195
ClinVar RCV Id: RCV002466865

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50194755C>A , CM000679.2:g.50194755C>A GRCh38
NC_000017.10:g.48272116C>A , CM000679.1:g.48272116C>A GRCh37
NC_000017.9:g.45627115C>A NCBI36
NG_007400.1:g.11885G>T , LRG_1:g.11885G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1427G>T MANE Select ENSP00000225964.6:p.Gly476Val
ENST00000225964.9:c.1427G>T ENSP00000225964.5:p.Gly476Val
ENST00000471344.1:n.371G>T
NM_000088.3:c.1427G>T , LRG_1t1:c.1427G>T NP_000079.2:p.Gly476Val
XM_005257058.3:c.1427G>T XP_005257115.2:p.Gly476Val
XM_005257059.3:c.957+1559G>T XP_005257116.2:n.957+1559G>T
XM_011524341.1:c.1229G>T XP_011522643.1:p.Gly410Val
XM_005257058.4:c.1427G>T XP_005257115.2:p.Gly476Val
XM_005257059.4:c.957+1559G>T XP_005257116.2:n.957+1559G>T
NM_000088.4:c.1427G>T MANE Select NP_000079.2:p.Gly476Val