Canonical Allele Identifier: CA8645131

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 3230265
• ClinVar RCV Id: RCV004520416
• dbSNP Id: rs753501091
• ExAC: 17:48271354 C / T
• gnomAD v2: 17-48271354-C-T
• gnomAD v4: 17-50193993-C-T
• MyVariant Identifiers: chr17:g.48271354C>T (hg19) ; chr17:g.50193993C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193993C>T , CM000679.2:g.50193993C>T	GRCh38
NC_000017.10:g.48271354C>T , CM000679.1:g.48271354C>T	GRCh37
NC_000017.9:g.45626353C>T	NCBI36
NG_007400.1:g.12647G>A , LRG_1:g.12647G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1717G>A MANE Select	ENSP00000225964.6:p.Ala573Thr
ENST00000225964.9:c.1717G>A	ENSP00000225964.5:p.Ala573Thr
ENST00000463440.1:n.107G>A
ENST00000471344.1:n.749G>A
ENST00000476387.1:n.66G>A
NM_000088.3:c.1717G>A , LRG_1t1:c.1717G>A	NP_000079.2:p.Ala573Thr
XM_005257058.3:c.1717G>A	XP_005257115.2:p.Ala573Thr
XM_005257059.3:c.958-1300G>A	XP_005257116.2:n.958-1300G>A
XM_011524341.1:c.1519G>A	XP_011522643.1:p.Ala507Thr
XM_005257058.4:c.1717G>A	XP_005257115.2:p.Ala573Thr
XM_005257059.4:c.958-1300G>A	XP_005257116.2:n.958-1300G>A
NM_000088.4:c.1717G>A MANE Select	NP_000079.2:p.Ala573Thr