Canonical Allele Identifier: CA400215371

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1163609
• ClinVar RCV Id: RCV001508817
• dbSNP Id: rs753501091
• MyVariant Identifiers: chr17:g.48271354C>G (hg19) ; chr17:g.50193993C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.1717G>C MANE Select	ENSP00000225964.6:p.Ala573Pro
ENST00000225964.9:c.1717G>C	ENSP00000225964.5:p.Ala573Pro
ENST00000463440.1:n.107G>C
ENST00000471344.1:n.749G>C
ENST00000476387.1:n.66G>C
NM_000088.3:c.1717G>C , LRG_1t1:c.1717G>C	NP_000079.2:p.Ala573Pro
XM_005257058.3:c.1717G>C	XP_005257115.2:p.Ala573Pro
XM_005257059.3:c.958-1300G>C	XP_005257116.2:n.958-1300G>C
XM_011524341.1:c.1519G>C	XP_011522643.1:p.Ala507Pro
XM_005257058.4:c.1717G>C	XP_005257115.2:p.Ala573Pro
XM_005257059.4:c.958-1300G>C	XP_005257116.2:n.958-1300G>C
NM_000088.4:c.1717G>C MANE Select	NP_000079.2:p.Ala573Pro