Canonical Allele Identifier: CA2638710159

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50194058-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194058C>G , CM000679.2:g.50194058C>G	GRCh38
NC_000017.10:g.48271419C>G , CM000679.1:g.48271419C>G	GRCh37
NC_000017.9:g.45626418C>G	NCBI36
NG_007400.1:g.12582G>C , LRG_1:g.12582G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1669-17G>C MANE Select	ENSP00000225964.6:n.1669-17G>C
ENST00000225964.9:c.1669-17G>C	ENSP00000225964.5:n.1669-17G>C
ENST00000463440.1:n.59-17G>C
ENST00000471344.1:n.684G>C
ENST00000476387.1:n.1G>C
NM_000088.3:c.1669-17G>C , LRG_1t1:c.1669-17G>C	NP_000079.2:n.1669-17G>C
XM_005257058.3:c.1669-17G>C	XP_005257115.2:n.1669-17G>C
XM_005257059.3:c.958-1365G>C	XP_005257116.2:n.958-1365G>C
XM_011524341.1:c.1471-17G>C	XP_011522643.1:n.1471-17G>C
XM_005257058.4:c.1669-17G>C	XP_005257115.2:n.1669-17G>C
XM_005257059.4:c.958-1365G>C	XP_005257116.2:n.958-1365G>C
NM_000088.4:c.1669-17G>C MANE Select	NP_000079.2:n.1669-17G>C