Canonical Allele Identifier: CA400191355

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50185798-C-G
• MyVariant Identifiers: chr17:g.48263159C>G (hg19) ; chr17:g.50185798C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185798C>G , CM000679.2:g.50185798C>G	GRCh38
NC_000017.10:g.48263159C>G , CM000679.1:g.48263159C>G	GRCh37
NC_000017.9:g.45618158C>G	NCBI36
NG_007400.1:g.20842G>C , LRG_1:g.20842G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4228G>C MANE Select	ENSP00000225964.6:p.Val1410Leu
ENST00000225964.9:c.4228G>C	ENSP00000225964.5:p.Val1410Leu
NM_000088.3:c.4228G>C , LRG_1t1:c.4228G>C	NP_000079.2:p.Val1410Leu
XM_005257058.3:c.3958G>C	XP_005257115.2:p.Val1320Leu
XM_005257059.3:c.3310G>C	XP_005257116.2:p.Val1104Leu
XM_011524341.1:c.4030G>C	XP_011522643.1:p.Val1344Leu
XM_005257058.4:c.3958G>C	XP_005257115.2:p.Val1320Leu
XM_005257059.4:c.3310G>C	XP_005257116.2:p.Val1104Leu
NM_000088.4:c.4228G>C MANE Select	NP_000079.2:p.Val1410Leu