Canonical Allele Identifier: CA400227567

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48276689C>G (hg19) ; chr17:g.50199328C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199328C>G , CM000679.2:g.50199328C>G	GRCh38
NC_000017.10:g.48276689C>G , CM000679.1:g.48276689C>G	GRCh37
NC_000017.9:g.45631688C>G	NCBI36
NG_007400.1:g.7312G>C , LRG_1:g.7312G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.370-1G>C MANE Select	ENSP00000225964.6:n.370-1G>C
ENST00000225964.9:c.370-1G>C	ENSP00000225964.5:n.370-1G>C
ENST00000474644.1:n.591-1G>C
ENST00000507689.1:c.424-1G>C	ENSP00000460459.1:n.424-1G>C
NM_000088.3:c.370-1G>C , LRG_1t1:c.370-1G>C	NP_000079.2:n.370-1G>C
XM_005257058.3:c.370-1G>C	XP_005257115.2:n.370-1G>C
XM_005257059.3:c.370-1G>C	XP_005257116.2:n.370-1G>C
XM_011524341.1:c.370-1G>C	XP_011522643.1:n.370-1G>C
XM_005257058.4:c.370-1G>C	XP_005257115.2:n.370-1G>C
XM_005257059.4:c.370-1G>C	XP_005257116.2:n.370-1G>C
NM_000088.4:c.370-1G>C MANE Select	NP_000079.2:n.370-1G>C