Canonical Allele Identifier: CA400200296

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50188145-G-T
• MyVariant Identifiers: chr17:g.48265506G>T (hg19) ; chr17:g.50188145G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188145G>T , CM000679.2:g.50188145G>T	GRCh38
NC_000017.10:g.48265506G>T , CM000679.1:g.48265506G>T	GRCh37
NC_000017.9:g.45620505G>T	NCBI36
NG_007400.1:g.18495C>A , LRG_1:g.18495C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3212C>A MANE Select	ENSP00000225964.6:p.Pro1071His
ENST00000225964.9:c.3212C>A	ENSP00000225964.5:p.Pro1071His
ENST00000486572.1:n.410C>A
ENST00000511732.1:n.536C>A
NM_000088.3:c.3212C>A , LRG_1t1:c.3212C>A	NP_000079.2:p.Pro1071His
XM_005257058.3:c.2942C>A	XP_005257115.2:p.Pro981His
XM_005257059.3:c.2294C>A	XP_005257116.2:p.Pro765His
XM_011524341.1:c.3014C>A	XP_011522643.1:p.Pro1005His
XM_005257058.4:c.2942C>A	XP_005257115.2:p.Pro981His
XM_005257059.4:c.2294C>A	XP_005257116.2:p.Pro765His
NM_000088.4:c.3212C>A MANE Select	NP_000079.2:p.Pro1071His