Canonical Allele Identifier: CA8645452
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 324114
dbSNP Id: rs368316440

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50196145C>A , CM000679.2:g.50196145C>A GRCh38
NC_000017.10:g.48273506C>A , CM000679.1:g.48273506C>A GRCh37
NC_000017.9:g.45628505C>A NCBI36
NG_007400.1:g.10495G>T , LRG_1:g.10495G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1002+10G>T MANE Select ENSP00000225964.6:n.1002+10G>T
ENST00000225964.9:c.1002+10G>T ENSP00000225964.5:n.1002+10G>T
ENST00000485870.1:n.337G>T
NM_000088.3:c.1002+10G>T , LRG_1t1:c.1002+10G>T NP_000079.2:n.1002+10G>T
XM_005257058.3:c.1002+10G>T XP_005257115.2:n.1002+10G>T
XM_005257059.3:c.957+169G>T XP_005257116.2:n.957+169G>T
XM_011524341.1:c.957+169G>T XP_011522643.1:n.957+169G>T
XM_005257058.4:c.1002+10G>T XP_005257115.2:n.1002+10G>T
XM_005257059.4:c.957+169G>T XP_005257116.2:n.957+169G>T
NM_000088.4:c.1002+10G>T MANE Select NP_000079.2:n.1002+10G>T