Canonical Allele Identifier: CA2638704543

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50185687-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185687C>G , CM000679.2:g.50185687C>G	GRCh38
NC_000017.10:g.48263048C>G , CM000679.1:g.48263048C>G	GRCh37
NC_000017.9:g.45618047C>G	NCBI36
NG_007400.1:g.20953G>C , LRG_1:g.20953G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4249-39G>C MANE Select	ENSP00000225964.6:n.4249-39G>C
ENST00000225964.9:c.4249-39G>C	ENSP00000225964.5:n.4249-39G>C
NM_000088.3:c.4249-39G>C , LRG_1t1:c.4249-39G>C	NP_000079.2:n.4249-39G>C
XM_005257058.3:c.3979-39G>C	XP_005257115.2:n.3979-39G>C
XM_005257059.3:c.3331-39G>C	XP_005257116.2:n.3331-39G>C
XM_011524341.1:c.4051-39G>C	XP_011522643.1:n.4051-39G>C
XM_005257058.4:c.3979-39G>C	XP_005257115.2:n.3979-39G>C
XM_005257059.4:c.3331-39G>C	XP_005257116.2:n.3331-39G>C
NM_000088.4:c.4249-39G>C MANE Select	NP_000079.2:n.4249-39G>C